R86S (p.Arg86Ser) variant of KRT1 (Keratin, type II cytoskeletal 1)
R86S (p.Arg86Ser) in KRT1 (Keratin, type II cytoskeletal 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data and structural context.
R86S (p.Arg86Ser) variant details
- p.Arg86Ser
- rs145256530
- ClinGen CA6586473
- ClinVar RCV000965893
- ClinVar RCV003905902
- Benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.151
- REVEL 0.15
- CADD 0.68
- PolyPhen-2 0.00
- SIFT 0.35
- ClinVar: Benign (not provided)
- EBI: Benign
- UniProt: Benign
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available