S25L (p.Ser25Leu) variant of FKRP (Q9H9S5)
S25L (p.Ser25Leu) in FKRP (Q9H9S5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data and structural context.
S25L (p.Ser25Leu) variant details
- p.Ser25Leu
- cosmic curated COSV59360
- ExAC rs766339195
- TOPMed rs766339195
- gnomAD rs766339195
- Missense
- Variant Prioritization Score for Impact Estimate 0.583
- REVEL 0.58
- CADD 22.50
- PolyPhen-2 0.55
- SIFT 0.71
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available