I94V (p.Ile94Val) variant of SLC8A1 (Sodium/calcium exchanger 1)
I94V (p.Ile94Val) 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.
I94V (p.Ile94Val) variant details
- p.Ile94Val
- Ensembl rs1559653969
- Missense
- Variant Prioritization Score for Impact Estimate 0.45
- REVEL 0.33
- CADD 24.90
- PolyPhen-2 0.24
- SIFT 0.01
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
- Structural context available