T36A (p.Thr36Ala) variant of KRT1 (Keratin, type II cytoskeletal 1)
T36A (p.Thr36Ala) in KRT1 (Keratin, type II cytoskeletal 1) 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 0.10 / 1. The record also includes population frequency data and structural context.
T36A (p.Thr36Ala) variant details
- p.Thr36Ala
- rs770868243
- ClinGen CA6586503
- ClinVar RCV003847296
- ExAC rs770868243
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.103
- REVEL 0.13
- CADD 0.14
- PolyPhen-2 0.01
- SIFT 0.58
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available