A71V (p.Ala71Val) variant of MBP (Myelin basic protein)
A71V (p.Ala71Val) in MBP (Myelin basic protein) 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 0.14 / 1. The record also includes population frequency data and structural context.
A71V (p.Ala71Val) variant details
- p.Ala71Val
- rs748030999
- NCI-TCGA Cosmic COSV1005
- cosmic curated COSV10059
- ExAC rs748030999
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.137
- REVEL 0.14
- CADD 10.80
- PolyPhen-2 0.02
- SIFT 0.08
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available