A12V (p.Ala12Val) variant of FKRP (Q9H9S5)
A12V (p.Ala12Val) in FKRP (Q9H9S5) 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 0.42 / 1. The record also includes population frequency data and structural context.
A12V (p.Ala12Val) variant details
- p.Ala12Val
- NCI-TCGA TCGA novel
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.424
- REVEL 0.39
- CADD 16.90
- PolyPhen-2 0.01
- SIFT 0.79
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available
- Structural context available