S29R (p.Ser29Arg) variant of KRT6A (Keratin, type II cytoskeletal 6A)
S29R (p.Ser29Arg) in KRT6A (Keratin, type II cytoskeletal 6A) is a missense change. Clinical records from ClinVar, EBI, 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 0.25 / 1. The record also includes population frequency data and structural context.
S29R (p.Ser29Arg) variant details
- p.Ser29Arg
- ExAC rs778160585
- TOPMed rs778160585
- gnomAD rs778160585
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.249
- REVEL 0.24
- CADD 15.60
- PolyPhen-2 0.00
- SIFT 0.17
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00015)
- Structural context available