A129V (p.Ala129Val) variant of CYP27B1 (O15528)
A129V (p.Ala129Val) in CYP27B1 (O15528) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Vitamin D-dependent rickets, type 1A; Vitamin D-dependent rickets, type 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes structural context.
A129V (p.Ala129Val) variant details
- p.Ala129Val
- rs2140397587
- ClinGen CA385507516
- ClinVar RCV001843328
- ClinVar RCV005006081
- Likely pathogenic
- Vitamin D-dependent rickets, type 1A; Vitamin D-dependent rickets, type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.437
- ESM-1b 0.27
- AlphaMissense 0.26
- MetaLR 0.46
- MetaSVM -0.21
- PolyPhen-2 1.00
- SIFT 0.08
- ClinVar: Likely pathogenic (Vitamin D-dependent rickets, type 1A; Vitamin D-dependent ricket)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available