R20G (p.Arg20Gly) variant of SLC12A1 (Q13621)
R20G (p.Arg20Gly) in SLC12A1 (Q13621) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data and structural context.
R20G (p.Arg20Gly) variant details
- p.Arg20Gly
- cosmic curated COSV10037
- Missense
- Variant Prioritization Score for Impact Estimate 0.688
- REVEL 0.58
- MetaLR 0.76
- MetaSVM 0.74
- CADD 25.00
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available