M31L (p.Met31Leu) variant of CLCN5 (P51795)
M31L (p.Met31Leu) in CLCN5 (P51795) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
M31L (p.Met31Leu) variant details
- p.Met31Leu
- gnomAD X-50042390-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.293
- REVEL 0.22
- MetaLR 0.32
- MetaSVM -0.80
- CADD 12.70
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available
- Literature evidence available