A106G (p.Ala106Gly) variant of KRT4 (Keratin, type II cytoskeletal 4)
A106G (p.Ala106Gly) 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 Inborn genetic diseases; White sponge nevus 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
A106G (p.Ala106Gly) variant details
- p.Ala106Gly
- rs753431318
- ClinGen CA6588775
- ClinVar RCV001110120
- ClinVar RCV004032150
- Uncertain significance
- Inborn genetic diseases; White sponge nevus 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.485
- REVEL 0.30
- CADD 22.90
- PolyPhen-2 0.44
- SIFT 0.02
- ClinVar: Uncertain significance (Inborn genetic diseases; White sponge nevus 1)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- 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)