S24N (p.Ser24Asn) variant of CLCN5 (P51795)
S24N (p.Ser24Asn) in CLCN5 (P51795) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
S24N (p.Ser24Asn) variant details
- p.Ser24Asn
- gnomAD X-50042370-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.35
- REVEL 0.24
- MetaLR 0.50
- MetaSVM -0.20
- CADD 18.90
- PolyPhen-2 0.11
- SIFT 0.12
- Population evidence available
- Structural context available
- Literature evidence available