T33N (p.Thr33Asn) variant of KRT5 (Keratin, type II cytoskeletal 5)
T33N (p.Thr33Asn) in KRT5 (Keratin, type II cytoskeletal 5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
T33N (p.Thr33Asn) variant details
- p.Thr33Asn
- gnomAD rs1366922155
- Missense
- Variant Prioritization Score for Impact Estimate 0.29
- REVEL 0.07
- CADD 17.60
- PolyPhen-2 0.01
- SIFT 0.01
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available