G16V (p.Gly16Val) variant of SLC8A1 (Sodium/calcium exchanger 1)
G16V (p.Gly16Val) in SLC8A1 (Sodium/calcium exchanger 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
G16V (p.Gly16Val) variant details
- p.Gly16Val
- cosmic curated COSV60470
- gnomAD rs1258924118
- Missense
- Variant Prioritization Score for Impact Estimate 0.389
- REVEL 0.16
- CADD 17.00
- PolyPhen-2 0.41
- SIFT 0.62
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available