G108S (p.Gly108Ser) variant of KRT5 (Keratin, type II cytoskeletal 5)
G108S (p.Gly108Ser) in KRT5 (Keratin, type II cytoskeletal 5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
G108S (p.Gly108Ser) variant details
- p.Gly108Ser
- rs146022149
- ClinGen CA6582868
- ClinVar RCV001771524
- ClinVar RCV003910997
- Conflicting interpretations
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.465
- REVEL 0.40
- CADD 21.50
- PolyPhen-2 0.19
- SIFT 0.16
- ClinVar: Conflicting classifications of pathogenicity (not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the HGDP:MBUTI population (allele frequency 0.17)
- Structural context available