H44Y (p.His44Tyr) variant of SLC12A1 (Q13621)
H44Y (p.His44Tyr) in SLC12A1 (Q13621) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and structural context.
H44Y (p.His44Tyr) variant details
- p.His44Tyr
- Ensembl rs2041000204
- Missense
- Variant Prioritization Score for Impact Estimate 0.507
- REVEL 0.38
- MetaLR 0.46
- MetaSVM 0.02
- CADD 22.50
- PolyPhen-2 0.05
- SIFT 0.06
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available