R6Q (p.Arg6Gln) variant of SLC8A1 (Sodium/calcium exchanger 1)
R6Q (p.Arg6Gln) in SLC8A1 (Sodium/calcium exchanger 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.04 / 1. The record also includes population frequency data and structural context.
R6Q (p.Arg6Gln) variant details
- p.Arg6Gln
- cosmic curated COSV60482
- ESP rs202097070
- ExAC rs202097070
- TOPMed rs202097070
- Missense
- Variant Prioritization Score for Impact Estimate 0.0389
- REVEL 0.02
- CADD 1.12
- PolyPhen-2 0.00
- SIFT 0.36
- Most common in the Non-Finnish European population (allele frequency 0.0001)
- Structural context available