G59W (p.Gly59Trp) variant of KRT16 (Keratin, type I cytoskeletal 16)
G59W (p.Gly59Trp) in KRT16 (Keratin, type I cytoskeletal 16) 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 0.40 / 1. The record also includes population frequency data and structural context.
G59W (p.Gly59Trp) variant details
- p.Gly59Trp
- rs765169539
- ClinGen CA399496066
- ClinVar RCV001354876
- ExAC rs765169539
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.396
- REVEL 0.40
- CADD 23.20
- PolyPhen-2 0.51
- SIFT 0.04
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available