R5Q (p.Arg5Gln) variant of SLC8A1 (Sodium/calcium exchanger 1)
R5Q (p.Arg5Gln) in SLC8A1 (Sodium/calcium exchanger 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.07 / 1. The record also includes population frequency data and structural context.
R5Q (p.Arg5Gln) variant details
- p.Arg5Gln
- cosmic curated COSV60469
- ESP rs139897746
- ExAC rs139897746
- TOPMed rs139897746
- Missense
- Variant Prioritization Score for Impact Estimate 0.0653
- REVEL 0.02
- CADD 7.06
- PolyPhen-2 0.00
- SIFT 0.61
- Most common in the East Asian population (allele frequency 0.00033)
- Structural context available