C62Y (p.Cys62Tyr) variant of KRT16 (Keratin, type I cytoskeletal 16)
C62Y (p.Cys62Tyr) in KRT16 (Keratin, type I cytoskeletal 16) is a missense change. Clinical records from ClinVar and UniProt describe it as likely benign in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
C62Y (p.Cys62Tyr) variant details
- p.Cys62Tyr
- rs367990963
- 1000Genomes rs367990963
- ESP rs367990963
- ExAC rs367990963
- Likely benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.303
- REVEL 0.19
- CADD 20.40
- PolyPhen-2 0.09
- SIFT 0.07
- ClinVar: Likely benign (not provided)
- UniProt: Likely benign
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available