A11V (p.Ala11Val) variant of FKRP (Q9H9S5)
A11V (p.Ala11Val) in FKRP (Q9H9S5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
A11V (p.Ala11Val) variant details
- p.Ala11Val
- rs760295001
- ClinGen CA9532097
- cosmic curated COSV10964
- ClinVar RCV001214515
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.466
- REVEL 0.45
- CADD 18.40
- PolyPhen-2 0.31
- SIFT 0.99
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available