Y54N (p.Tyr54Asn) variant of KRT8 (Keratin, type II cytoskeletal 8)
Y54N (p.Tyr54Asn) in KRT8 (Keratin, type II cytoskeletal 8) is a missense change. Clinical records from EBI and UniProt describe it as benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data.
Y54N (p.Tyr54Asn) variant details
- p.Tyr54Asn
- 1000Genomes rs57749775
- ESP rs57749775
- ExAC rs57749775
- TOPMed rs57749775
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.4
- CADD 23.00
- PolyPhen-2 0.44
- SIFT 0.03
- EBI: Benign
- UniProt: Benign
- Most common in the 1KG:MXL population (allele frequency 0.0081)