M39R (p.Met39Arg) variant of SLC8A1 (Sodium/calcium exchanger 1)
M39R (p.Met39Arg) in SLC8A1 (Sodium/calcium exchanger 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
M39R (p.Met39Arg) variant details
- p.Met39Arg
- TOPMed rs1697922016
- Missense
- Variant Prioritization Score for Impact Estimate 0.281
- REVEL 0.04
- CADD 15.30
- PolyPhen-2 0.01
- SIFT 0.56
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available