R9G (p.Arg9Gly) variant of KRT4 (Keratin, type II cytoskeletal 4)
R9G (p.Arg9Gly) in KRT4 (Keratin, type II cytoskeletal 4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of White sponge nevus 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
R9G (p.Arg9Gly) variant details
- p.Arg9Gly
- rs886049646
- ClinGen CA10642823
- ClinVar RCV000282333
- TOPMed rs886049646
- Uncertain significance
- White sponge nevus 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.419
- REVEL 0.30
- CADD 18.40
- PolyPhen-2 0.03
- SIFT 0.06
- ClinVar: Uncertain significance (White sponge nevus 1)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available