I36T (p.Ile36Thr) variant of KRT10 (Keratin, type I cytoskeletal 10)
I36T (p.Ile36Thr) in KRT10 (Keratin, type I cytoskeletal 10) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data.
I36T (p.Ile36Thr) variant details
- p.Ile36Thr
- rs1158516720
- ClinGen CA399396617
- ClinVar RCV003683524
- TOPMed rs1158516720
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.354
- REVEL 0.21
- CADD 20.60
- PolyPhen-2 0.03
- SIFT 0.03
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00041)