D38N (p.Asp38Asn) variant of SLC12A1 (Q13621)
D38N (p.Asp38Asn) in SLC12A1 (Q13621) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
D38N (p.Asp38Asn) variant details
- p.Asp38Asn
- gnomAD 15-48207831-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.175
- REVEL 0.15
- MetaLR 0.04
- MetaSVM -1.03
- CADD 6.69
- PolyPhen-2 0.00
- SIFT 0.37
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available