Q55R (p.Gln55Arg) variant of SLC12A1 (Q13621)
Q55R (p.Gln55Arg) in SLC12A1 (Q13621) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
Q55R (p.Gln55Arg) variant details
- p.Gln55Arg
- ESP rs368901120
- TOPMed rs368901120
- Missense
- Variant Prioritization Score for Impact Estimate 0.247
- REVEL 0.17
- MetaLR 0.09
- MetaSVM -0.89
- CADD 18.10
- PolyPhen-2 0.01
- SIFT 0.22
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available