P62S (p.Pro62Ser) variant of SLC8A1 (Sodium/calcium exchanger 1)
P62S (p.Pro62Ser) in SLC8A1 (Sodium/calcium exchanger 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data and structural context.
P62S (p.Pro62Ser) variant details
- p.Pro62Ser
- TOPMed rs1338928156
- gnomAD rs1338928156
- Missense
- Variant Prioritization Score for Impact Estimate 0.612
- REVEL 0.49
- CADD 25.80
- PolyPhen-2 0.80
- SIFT 0.01
- Most common in the Ashkenazi Jewish population (allele frequency 3.8e-05)
- Structural context available