G38A (p.Gly38Ala) variant of FKRP (Q9H9S5)
G38A (p.Gly38Ala) in FKRP (Q9H9S5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
G38A (p.Gly38Ala) variant details
- p.Gly38Ala
- gnomAD 19-46755563-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.319
- REVEL 0.37
- CADD 10.20
- PolyPhen-2 0.00
- SIFT 0.75
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available