N72S (p.Asn72Ser) variant of SLC12A3 (P55017)
N72S (p.Asn72Ser) in SLC12A3 (P55017) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
N72S (p.Asn72Ser) variant details
- p.Asn72Ser
- gnomAD rs1222883127
- Missense
- Variant Prioritization Score for Impact Estimate 0.491
- CADD 21.80
- PolyPhen-2 0.11
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available