G6C (p.Gly6Cys) variant of CLCN5 (P51795)
G6C (p.Gly6Cys) in CLCN5 (P51795) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data, published literature, and structural context.
G6C (p.Gly6Cys) variant details
- p.Gly6Cys
- gnomAD X-49925314-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.672
- REVEL 0.57
- MetaLR 0.78
- MetaSVM 0.67
- CADD 33.00
- PolyPhen-2 0.98
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available
- Literature evidence available