H41Q (p.His41Gln) variant of SLC12A3 (P55017)
H41Q (p.His41Gln) in SLC12A3 (P55017) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
H41Q (p.His41Gln) variant details
- p.His41Gln
- ExAC rs757975762
- gnomAD rs757975762
- Missense
- Variant Prioritization Score for Impact Estimate 0.423
- CADD 10.40
- PolyPhen-2 0.00
- SIFT 0.41
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available