D52N (p.Asp52Asn) variant of SLC12A1 (Q13621)
D52N (p.Asp52Asn) in SLC12A1 (Q13621) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
D52N (p.Asp52Asn) variant details
- p.Asp52Asn
- gnomAD 15-48207873-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.379
- REVEL 0.29
- MetaLR 0.46
- MetaSVM -0.22
- CADD 14.80
- PolyPhen-2 0.00
- SIFT 0.40
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available