S70F (p.Ser70Phe) variant of SLC8A1 (Sodium/calcium exchanger 1)
S70F (p.Ser70Phe) in SLC8A1 (Sodium/calcium exchanger 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data and structural context.
S70F (p.Ser70Phe) variant details
- p.Ser70Phe
- cosmic curated COSV60480
- Missense
- Variant Prioritization Score for Impact Estimate 0.649
- REVEL 0.55
- CADD 27.30
- PolyPhen-2 0.98
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available