E65K (p.Glu65Lys) variant of SLC8A1 (Sodium/calcium exchanger 1)
E65K (p.Glu65Lys) in SLC8A1 (Sodium/calcium exchanger 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
E65K (p.Glu65Lys) variant details
- p.Glu65Lys
- cosmic curated COSV60485
- Ensembl rs1697902992
- Missense
- Variant Prioritization Score for Impact Estimate 0.366
- REVEL 0.11
- CADD 17.60
- PolyPhen-2 0.95
- SIFT 1.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available