P65A (p.Pro65Ala) variant of SLC12A3 (P55017)
P65A (p.Pro65Ala) in SLC12A3 (P55017) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data and structural context.
P65A (p.Pro65Ala) variant details
- p.Pro65Ala
- NCI-TCGA TCGA novel
- gnomAD rs1964329481
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.742
- CADD 23.10
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available