A96T (p.Ala96Thr) variant of KRT6A (Keratin, type II cytoskeletal 6A)
A96T (p.Ala96Thr) in KRT6A (Keratin, type II cytoskeletal 6A) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. 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.
A96T (p.Ala96Thr) variant details
- p.Ala96Thr
- ESP rs372112762
- ExAC rs372112762
- TOPMed rs372112762
- gnomAD rs372112762
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.138
- REVEL 0.13
- CADD 12.90
- PolyPhen-2 0.03
- SIFT 0.05
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available