M15K (p.Met15Lys) variant of SLC8A1 (Sodium/calcium exchanger 1)
M15K (p.Met15Lys) in SLC8A1 (Sodium/calcium exchanger 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
M15K (p.Met15Lys) variant details
- p.Met15Lys
- ExAC rs772267395
- gnomAD rs772267395
- Missense
- Variant Prioritization Score for Impact Estimate 0.177
- REVEL 0.09
- CADD 17.10
- PolyPhen-2 0.00
- SIFT 0.31
- Most common in the East Asian population (allele frequency 5e-05)
- Structural context available