Q29R (p.Gln29Arg) variant of SPTA1 (P02549)
Q29R (p.Gln29Arg) in SPTA1 (P02549) 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 0.33 / 1. The record also includes population frequency data.
Q29R (p.Gln29Arg) variant details
- p.Gln29Arg
- NCI-TCGA TCGA novel
- gnomAD rs1655091699
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.332
- CADD 19.20
- PolyPhen-2 0.01
- SIFT 0.06
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the African/African-American population (allele frequency 2.4e-05)