A86S (p.Ala86Ser) variant of SLC9A3 (Sodium/hydrogen exchanger 3)
A86S (p.Ala86Ser) in SLC9A3 (Sodium/hydrogen exchanger 3) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
A86S (p.Ala86Ser) variant details
- p.Ala86Ser
- 1000Genomes rs558720750
- ExAC rs558720750
- TOPMed rs558720750
- gnomAD rs558720750
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.383
- REVEL 0.12
- CADD 23.70
- PolyPhen-2 0.73
- SIFT 0.02
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.6e-05)
- Structural context available