G11R (p.Gly11Arg) variant of KRT4 (Keratin, type II cytoskeletal 4)
G11R (p.Gly11Arg) in KRT4 (Keratin, type II cytoskeletal 4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of White sponge nevus 1; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
G11R (p.Gly11Arg) variant details
- p.Gly11Arg
- rs371421345
- ClinGen CA6588863
- ClinVar RCV001110878
- ClinVar RCV002558111
- Conflicting interpretations
- White sponge nevus 1; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.414
- REVEL 0.36
- CADD 19.20
- PolyPhen-2 0.50
- SIFT 0.02
- ClinVar: Conflicting classifications of pathogenicity (White sponge nevus 1; Inborn genetic diseases)
- EBI: Benign
- UniProt: Benign
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)