R98Q (p.Arg98Gln) variant of SLC8A1 (Sodium/calcium exchanger 1)
R98Q (p.Arg98Gln) in SLC8A1 (Sodium/calcium exchanger 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data and structural context.
R98Q (p.Arg98Gln) variant details
- p.Arg98Gln
- cosmic curated COSV10024
- gnomAD rs1379346196
- Missense
- Variant Prioritization Score for Impact Estimate 0.721
- REVEL 0.67
- CADD 26.60
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available