A129T (p.Ala129Thr) variant of CYP27B1 (O15528)
A129T (p.Ala129Thr) in CYP27B1 (O15528) 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 0.43 / 1. The record also includes population frequency data and structural context.
A129T (p.Ala129Thr) variant details
- p.Ala129Thr
- rs58915677
- ClinGen CA6658482
- ClinVar RCV000896271
- ClinVar RCV003910674
- Likely benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.429
- ESM-1b 0.56
- AlphaMissense 0.16
- MetaLR 0.21
- MetaSVM -0.82
- PolyPhen-2 0.59
- SIFT 0.53
- ClinVar: Likely benign (not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Population evidence available
- Structural context available