T24N (p.Thr24Asn) variant of KRT5 (Keratin, type II cytoskeletal 5)
T24N (p.Thr24Asn) in KRT5 (Keratin, type II cytoskeletal 5) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
T24N (p.Thr24Asn) variant details
- p.Thr24Asn
- rs768490644
- ExAC rs768490644
- TOPMed rs768490644
- gnomAD rs768490644
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.259
- REVEL 0.14
- CADD 23.70
- PolyPhen-2 0.03
- SIFT 0.01
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available