A100G (p.Ala100Gly) variant of KRT16 (Keratin, type I cytoskeletal 16)
A100G (p.Ala100Gly) in KRT16 (Keratin, type I cytoskeletal 16) is a missense change. Clinical records from ClinVar, EBI, 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 0.14 / 1. The record also includes population frequency data and structural context.
A100G (p.Ala100Gly) variant details
- p.Ala100Gly
- rs140537366
- ClinGen CA8563296
- ClinVar RCV002923067
- ExAC rs140537366
- Likely benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.136
- REVEL 0.18
- CADD 0.02
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Likely benign (not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available