G102S (p.Gly102Ser) variant of KRT5 (Keratin, type II cytoskeletal 5)
G102S (p.Gly102Ser) in KRT5 (Keratin, type II cytoskeletal 5) is a missense change. Clinical records from ClinVar 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 0.39 / 1. The record also includes population frequency data and structural context.
G102S (p.Gly102Ser) variant details
- p.Gly102Ser
- rs539432563
- NCI-TCGA Cosmic COSV5286
- ExAC rs539432563
- TOPMed rs539432563
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.388
- REVEL 0.43
- CADD 16.40
- PolyPhen-2 0.06
- SIFT 0.27
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available