F21L (p.Phe21Leu) variant of CLCN5 (P51795)
F21L (p.Phe21Leu) in CLCN5 (P51795) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
F21L (p.Phe21Leu) variant details
- p.Phe21Leu
- cosmic curated COSV65799
- Missense
- Variant Prioritization Score for Impact Estimate 0.33
- REVEL 0.19
- MetaLR 0.40
- MetaSVM -0.50
- CADD 19.60
- PolyPhen-2 0.00
- SIFT 0.65
- Population evidence available
- Structural context available