A62T (p.Ala62Thr) variant of SPTA1 (P02549)
A62T (p.Ala62Thr) in SPTA1 (P02549) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data.
A62T (p.Ala62Thr) variant details
- p.Ala62Thr
- TOPMed rs1396574054
- gnomAD rs1396574054
- Missense
- Variant Prioritization Score for Impact Estimate 0.689
- CADD 26.50
- PolyPhen-2 0.87
- SIFT 0.00
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)