N59S (p.Asn59Ser) variant of SLC12A3 (P55017)
N59S (p.Asn59Ser) in SLC12A3 (P55017) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data and structural context.
N59S (p.Asn59Ser) variant details
- p.Asn59Ser
- gnomAD rs1307936997
- Missense
- Variant Prioritization Score for Impact Estimate 0.553
- CADD 18.00
- PolyPhen-2 0.16
- SIFT 0.17
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available