N8D (p.Asn8Asp) variant of SLC12A1 (Q13621)
N8D (p.Asn8Asp) in SLC12A1 (Q13621) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
N8D (p.Asn8Asp) variant details
- p.Asn8Asp
- Ensembl rs2040998684
- Missense
- Variant Prioritization Score for Impact Estimate 0.299
- REVEL 0.22
- MetaLR 0.45
- MetaSVM -0.20
- CADD 18.90
- PolyPhen-2 0.01
- SIFT 0.04
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available