D62Y (p.Asp62Tyr) variant of SLC12A3 (P55017)
D62Y (p.Asp62Tyr) in SLC12A3 (P55017) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data, published literature, and structural context.
D62Y (p.Asp62Tyr) variant details
- p.Asp62Tyr
- gnomAD 16-56865419-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.84
- MetaLR 0.98
- MetaSVM 1.07
- CADD 24.90
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available
- Literature evidence available