S20N (p.Ser20Asn) variant of CLCN5 (P51795)
S20N (p.Ser20Asn) in CLCN5 (P51795) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
S20N (p.Ser20Asn) variant details
- p.Ser20Asn
- gnomAD X-50042358-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.523
- REVEL 0.39
- MetaLR 0.81
- MetaSVM 0.63
- CADD 23.10
- PolyPhen-2 0.92
- SIFT 0.04
- Population evidence available
- Structural context available
- Literature evidence available