A7G (p.Ala7Gly) variant of SLC12A2 (P55011)
A7G (p.Ala7Gly) in SLC12A2 (P55011) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
A7G (p.Ala7Gly) variant details
- p.Ala7Gly
- gnomAD 5-128083974-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.256
- REVEL 0.14
- CADD 19.10
- PolyPhen-2 0.00
- SIFT 0.09
- Most common in the African/African-American population (allele frequency 4.5e-05)
- Structural context available
- Literature evidence available