A8G (p.Ala8Gly) variant of FKRP (Q9H9S5)
A8G (p.Ala8Gly) in FKRP (Q9H9S5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
A8G (p.Ala8Gly) variant details
- p.Ala8Gly
- ExAC rs746377232
- gnomAD rs746377232
- Missense
- Variant Prioritization Score for Impact Estimate 0.401
- REVEL 0.36
- CADD 18.50
- PolyPhen-2 0.00
- SIFT 0.70
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available