A13S (p.Ala13Ser) variant of FKRP (Q9H9S5)
A13S (p.Ala13Ser) in FKRP (Q9H9S5) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data and structural context.
A13S (p.Ala13Ser) variant details
- p.Ala13Ser
- ExAC rs768376273
- gnomAD rs768376273
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.752
- REVEL 0.74
- CADD 25.90
- PolyPhen-2 0.86
- SIFT 0.01
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available