G44V (p.Gly44Val) variant of KRT5 (Keratin, type II cytoskeletal 5)
G44V (p.Gly44Val) in KRT5 (Keratin, type II cytoskeletal 5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
G44V (p.Gly44Val) variant details
- p.Gly44Val
- rs375759050
- ClinGen CA6582917
- ClinVar RCV004414398
- ExAC rs375759050
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.521
- REVEL 0.55
- CADD 24.90
- PolyPhen-2 0.48
- SIFT 0.01
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00039)
- 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)