L16I (p.Leu16Ile) variant of FKRP (Q9H9S5)
L16I (p.Leu16Ile) in FKRP (Q9H9S5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
L16I (p.Leu16Ile) variant details
- p.Leu16Ile
- cosmic curated COSV59360
- Missense
- Variant Prioritization Score for Impact Estimate 0.419
- REVEL 0.45
- CADD 14.90
- PolyPhen-2 0.08
- SIFT 0.48
- Population evidence available
- Structural context available