A28V (p.Ala28Val) variant of CYP11B1 (P15538)
A28V (p.Ala28Val) in CYP11B1 (P15538) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes structural context.
A28V (p.Ala28Val) variant details
- p.Ala28Val
- rs749211518
- NCI-TCGA Cosmic COSV5282
- cosmic curated COSV52826
- ExAC rs749211518
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.52
- AlphaMissense 0.13
- MetaLR 0.63
- MetaSVM -0.27
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.37
- UniProt: Variant assessed as somatic; moderate impact.
- Structural context available