A45V (p.Ala45Val) variant of FKRP (Q9H9S5)
A45V (p.Ala45Val) in FKRP (Q9H9S5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
A45V (p.Ala45Val) variant details
- p.Ala45Val
- Ensembl rs2122609374
- Missense
- Variant Prioritization Score for Impact Estimate 0.237
- REVEL 0.24
- CADD 2.01
- PolyPhen-2 0.00
- SIFT 0.49
- Population evidence available
- Structural context available