S14L (p.Ser14Leu) variant of SLC8A1 (Sodium/calcium exchanger 1)
S14L (p.Ser14Leu) in SLC8A1 (Sodium/calcium exchanger 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
S14L (p.Ser14Leu) variant details
- p.Ser14Leu
- cosmic curated COSV10024
- Missense
- Variant Prioritization Score for Impact Estimate 0.284
- REVEL 0.10
- CADD 18.40
- PolyPhen-2 0.00
- SIFT 0.70
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available