M8V (p.Met8Val) variant of CLCN5 (P51795)
M8V (p.Met8Val) in CLCN5 (P51795) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
M8V (p.Met8Val) variant details
- p.Met8Val
- ExAC rs781863873
- gnomAD rs781863873
- Missense
- Variant Prioritization Score for Impact Estimate 0.481
- REVEL 0.41
- MetaLR 0.67
- MetaSVM 0.12
- CADD 23.60
- PolyPhen-2 0.46
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 3.7e-06)
- Structural context available