D37N (p.Asp37Asn) variant of SLC12A1 (Q13621)
D37N (p.Asp37Asn) in SLC12A1 (Q13621) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
D37N (p.Asp37Asn) variant details
- p.Asp37Asn
- gnomAD 15-48207828-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.208
- REVEL 0.18
- MetaLR 0.45
- MetaSVM -0.60
- CADD 1.99
- PolyPhen-2 0.00
- SIFT 0.47
- Most common in the REMAINING population (allele frequency 3.3e-05)
- Structural context available
- Literature evidence available