G82S (p.Gly82Ser) variant of KRT6A (Keratin, type II cytoskeletal 6A)
G82S (p.Gly82Ser) in KRT6A (Keratin, type II cytoskeletal 6A) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
G82S (p.Gly82Ser) variant details
- p.Gly82Ser
- rs758984854
- ExAC rs758984854
- TOPMed rs758984854
- gnomAD rs758984854
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.21
- REVEL 0.24
- CADD 15.00
- PolyPhen-2 0.01
- SIFT 0.15
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available