G100S (p.Gly100Ser) variant of KRT3 (Keratin, type II cytoskeletal 3)
G100S (p.Gly100Ser) in KRT3 (Keratin, type II cytoskeletal 3) is a missense change. Clinical records from ClinVar and UniProt describe it as conflicting interpretations in the context of not provided; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
G100S (p.Gly100Ser) variant details
- p.Gly100Ser
- 1000Genomes rs188384912
- ESP rs188384912
- ExAC rs188384912
- TOPMed rs188384912
- Conflicting interpretations
- not provided; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.312
- REVEL 0.22
- CADD 10.80
- PolyPhen-2 0.17
- SIFT 0.16
- ClinVar: Conflicting classifications of pathogenicity (not provided; not specified)
- UniProt: Conflicting interpretations
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available