R16P (p.Arg16Pro) variant of KRT6B (Keratin, type II cytoskeletal 6B)
R16P (p.Arg16Pro) in KRT6B (Keratin, type II cytoskeletal 6B) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
R16P (p.Arg16Pro) variant details
- p.Arg16Pro
- ExAC rs749556525
- TOPMed rs749556525
- gnomAD rs749556525
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.28
- REVEL 0.22
- CADD 17.70
- PolyPhen-2 0.03
- SIFT 0.02
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available