L16V (p.Leu16Val) variant of FKRP (Q9H9S5)
L16V (p.Leu16Val) in FKRP (Q9H9S5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
L16V (p.Leu16Val) variant details
- p.Leu16Val
- gnomAD 19-46755496-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.386
- REVEL 0.40
- CADD 13.50
- PolyPhen-2 0.01
- SIFT 0.54
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available