P78R (p.Pro78Arg) variant of CBS (Cystathionine beta-synthase)
P78R (p.Pro78Arg) in CBS (Cystathionine beta-synthase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
P78R (p.Pro78Arg) variant details
- p.Pro78Arg
- rs786204608
- ClinGen CA274218
- ClinVar RCV000169367
- ClinVar RCV002444679
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.843
- REVEL 0.95
- ESM-1b 1.00
- AlphaMissense 0.14
- CADD 25.90
- PolyPhen-2 0.84
- SIFT 0.01
- ClinVar: Uncertain significance (not specified)
- EBI: Pathogenic (in CBSD)
- UniProt: Pathogenic (in CBSD)
- Population evidence available
- Structural context available
- CBS high-B6: score 0
- Cited in: Cystathionine beta-synthase mutations: effect of mutation topology on folding and activity. (PMID 20506325)
- Cited in: Identical genotypes in siblings with different homocystinuric phenotypes: identification of three mutations in… (PMID 7981678)