A40V (p.Ala40Val) variant of CYP27A1 (Q02318)
A40V (p.Ala40Val) in CYP27A1 (Q02318) 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 0.16 / 1. The record also includes population frequency data and structural context.
A40V (p.Ala40Val) variant details
- p.Ala40Val
- NCI-TCGA Cosmic COSV5146
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.158
- REVEL 0.07
- CADD 10.30
- PolyPhen-2 0.04
- SIFT 0.24
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available
- Structural context available