I24T (p.Ile24Thr) variant of SPTA1 (P02549)
I24T (p.Ile24Thr) in SPTA1 (P02549) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data.
I24T (p.Ile24Thr) variant details
- p.Ile24Thr
- gnomAD rs1467409837
- Missense
- Variant Prioritization Score for Impact Estimate 0.655
- CADD 27.80
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.2e-05)