A89T (p.Ala89Thr) variant of KRT5 (Keratin, type II cytoskeletal 5)
A89T (p.Ala89Thr) in KRT5 (Keratin, type II cytoskeletal 5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data and structural context.
A89T (p.Ala89Thr) variant details
- p.Ala89Thr
- TOPMed rs1207950244
- gnomAD rs1207950244
- Missense
- Variant Prioritization Score for Impact Estimate 0.142
- REVEL 0.05
- CADD 12.40
- PolyPhen-2 0.00
- SIFT 0.18
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available