D71N (p.Asp71Asn) variant of SLC12A1 (Q13621)
D71N (p.Asp71Asn) in SLC12A1 (Q13621) 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.
D71N (p.Asp71Asn) variant details
- p.Asp71Asn
- gnomAD 15-48207930-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.351
- REVEL 0.20
- MetaLR 0.11
- MetaSVM -0.90
- CADD 20.50
- PolyPhen-2 0.00
- SIFT 0.22
- Population evidence available
- Structural context available
- Literature evidence available