A11T (p.Ala11Thr) variant of HMBS (Porphobilinogen deaminase)
A11T (p.Ala11Thr) in HMBS (Porphobilinogen deaminase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
A11T (p.Ala11Thr) variant details
- p.Ala11Thr
- rs142812375
- ClinGen CA6313833
- ClinVar RCV002180348
- 1000Genomes rs142812375
- Likely benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.295
- REVEL 0.35
- ESM-1b 0.00
- AlphaMissense 0.07
- CADD 14.90
- PolyPhen-2 0.00
- SIFT 0.51
- ClinVar: Likely benign (not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the HGDP:BANTUKENYA population (allele frequency 0.2)
- Structural context available