S19N (p.Ser19Asn) variant of CLCN5 (P51795)
S19N (p.Ser19Asn) in CLCN5 (P51795) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
S19N (p.Ser19Asn) variant details
- p.Ser19Asn
- ExAC rs781788759
- gnomAD rs781788759
- Missense
- Variant Prioritization Score for Impact Estimate 0.236
- REVEL 0.19
- MetaLR 0.38
- MetaSVM -0.71
- CADD 13.30
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00017)
- Structural context available