H47N (p.His47Asn) variant of SLC12A3 (P55017)
H47N (p.His47Asn) in SLC12A3 (P55017) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data and structural context.
H47N (p.His47Asn) variant details
- p.His47Asn
- ExAC rs776141975
- gnomAD rs776141975
- Missense
- Variant Prioritization Score for Impact Estimate 0.59
- CADD 17.90
- PolyPhen-2 0.08
- SIFT 0.13
- Most common in the South Asian population (allele frequency 4.6e-05)
- Structural context available