I20M (p.Ile20Met) variant of KRT16 (Keratin, type I cytoskeletal 16)
I20M (p.Ile20Met) in KRT16 (Keratin, type I cytoskeletal 16) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.05 / 1. The record also includes population frequency data and structural context.
I20M (p.Ile20Met) variant details
- p.Ile20Met
- ExAC rs748848000
- TOPMed rs748848000
- gnomAD rs748848000
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.0476
- REVEL 0.04
- CADD 0.61
- PolyPhen-2 0.00
- SIFT 0.24
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available