G14R (p.Gly14Arg) variant of SPTA1 (P02549)
G14R (p.Gly14Arg) 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 0.58 / 1. The record also includes population frequency data.
G14R (p.Gly14Arg) variant details
- p.Gly14Arg
- ExAC rs778856242
- TOPMed rs778856242
- gnomAD rs778856242
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.576
- CADD 25.10
- PolyPhen-2 0.97
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 7e-05)