A114V (p.Ala114Val) variant of CBS (Cystathionine beta-synthase)
A114V (p.Ala114Val) in CBS (Cystathionine beta-synthase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of CBS-related disorder; Homocystinuria; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
A114V (p.Ala114Val) variant details
- p.Ala114Val
- rs121964964
- ClinGen CA113878
- cosmic curated COSV61442
- ClinVar RCV000000140
- Pathogenic/Likely pathogenic
- CBS-related disorder; Homocystinuria; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.779
- REVEL 0.88
- ESM-1b 1.00
- AlphaMissense 0.29
- CADD 24.30
- PolyPhen-2 0.37
- SIFT 0.01
- ClinVar: Pathogenic/Likely pathogenic (CBS-related disorder; Homocystinuria; not provided)
- EBI: Pathogenic (in CBSD)
- UniProt: Pathogenic (in CBSD)
- Most common in the HGDP:PIMA population (allele frequency 0.062)
- Structural context available
- CBS low-B6: score 0.118
- Cited in: Impaired heme binding and aggregation of mutant cystathionine beta-synthase subunits in homocystinuria. (PMID 11359213)
- Cited in: Cystathionine beta-synthase mutations: effect of mutation topology on folding and activity. (PMID 20506325)