A85S (p.Ala85Ser) variant of KRT2 (P35908)
A85S (p.Ala85Ser) in KRT2 (P35908) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data and structural context.
A85S (p.Ala85Ser) variant details
- p.Ala85Ser
- rs747178935
- NCI-TCGA Cosmic COSV5901
- ExAC rs747178935
- TOPMed rs747178935
- Likely benign
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.158
- REVEL 0.16
- CADD 0.04
- PolyPhen-2 0.00
- SIFT 0.70
- ClinVar: Likely benign (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available