G51W (p.Gly51Trp) variant of SLC12A1 (Q13621)
G51W (p.Gly51Trp) in SLC12A1 (Q13621) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
G51W (p.Gly51Trp) variant details
- p.Gly51Trp
- gnomAD 15-48207870-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.457
- REVEL 0.39
- MetaLR 0.09
- MetaSVM -0.88
- CADD 24.00
- PolyPhen-2 0.27
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available