A8P (p.Ala8Pro) variant of FKRP (Q9H9S5)
A8P (p.Ala8Pro) in FKRP (Q9H9S5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data, published literature, and structural context.
A8P (p.Ala8Pro) variant details
- p.Ala8Pro
- gnomAD 19-46755472-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.728
- REVEL 0.71
- CADD 24.00
- PolyPhen-2 0.45
- SIFT 0.15
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available