S24G (p.Ser24Gly) variant of CLCN5 (P51795)
S24G (p.Ser24Gly) in CLCN5 (P51795) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
S24G (p.Ser24Gly) variant details
- p.Ser24Gly
- gnomAD rs1557187279
- Missense
- Variant Prioritization Score for Impact Estimate 0.309
- REVEL 0.20
- MetaLR 0.48
- MetaSVM -0.34
- CADD 18.90
- PolyPhen-2 0.00
- SIFT 0.41
- Most common in the REMAINING population (allele frequency 2.2e-05)
- Structural context available