A12S (p.Ala12Ser) variant of FKRP (Q9H9S5)
A12S (p.Ala12Ser) in FKRP (Q9H9S5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
A12S (p.Ala12Ser) variant details
- p.Ala12Ser
- gnomAD 19-46755484-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.512
- REVEL 0.42
- CADD 21.70
- PolyPhen-2 0.24
- SIFT 0.35
- Most common in the Finnish in Finland (FIN) population (allele frequency 2e-05)
- Structural context available
- Literature evidence available