I87T (p.Ile87Thr) variant of SPTA1 (P02549)
I87T (p.Ile87Thr) in SPTA1 (P02549) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data.
I87T (p.Ile87Thr) variant details
- p.Ile87Thr
- ExAC rs757763837
- TOPMed rs757763837
- gnomAD rs757763837
- Missense
- Variant Prioritization Score for Impact Estimate 0.479
- CADD 25.10
- PolyPhen-2 0.92
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 9e-05)