A21G (p.Ala21Gly) variant of SPTA1 (P02549)
A21G (p.Ala21Gly) in SPTA1 (P02549) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data.
A21G (p.Ala21Gly) variant details
- p.Ala21Gly
- ExAC rs752380355
- TOPMed rs752380355
- gnomAD rs752380355
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.664
- CADD 24.40
- PolyPhen-2 0.75
- SIFT 0.06
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3e-05)