F71S (p.Phe71Ser) variant of SLC8A1 (Sodium/calcium exchanger 1)
F71S (p.Phe71Ser) in SLC8A1 (Sodium/calcium exchanger 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
F71S (p.Phe71Ser) variant details
- p.Phe71Ser
- ExAC rs760822866
- gnomAD rs760822866
- Missense
- Variant Prioritization Score for Impact Estimate 0.452
- REVEL 0.33
- CADD 23.10
- PolyPhen-2 0.96
- SIFT 0.30
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available