M88V (p.Met88Val) variant of SLC8A1 (Sodium/calcium exchanger 1)
M88V (p.Met88Val) in SLC8A1 (Sodium/calcium exchanger 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
M88V (p.Met88Val) variant details
- p.Met88Val
- gnomAD rs1345230389
- Missense
- Variant Prioritization Score for Impact Estimate 0.418
- REVEL 0.29
- CADD 23.00
- PolyPhen-2 0.08
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available