S14P (p.Ser14Pro) variant of SLC8A1 (Sodium/calcium exchanger 1)
S14P (p.Ser14Pro) in SLC8A1 (Sodium/calcium exchanger 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data and structural context.
S14P (p.Ser14Pro) variant details
- p.Ser14Pro
- TOPMed rs1365148622
- gnomAD rs1365148622
- Missense
- Variant Prioritization Score for Impact Estimate 0.187
- REVEL 0.09
- CADD 18.20
- PolyPhen-2 0.00
- SIFT 0.34
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available