G24S (p.Gly24Ser) variant of KRT4 (Keratin, type II cytoskeletal 4)
G24S (p.Gly24Ser) in KRT4 (Keratin, type II cytoskeletal 4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
G24S (p.Gly24Ser) variant details
- p.Gly24Ser
- rs371503785
- ClinGen CA6588847
- ClinVar RCV003254898
- ESP rs371503785
- Likely benign
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.36
- REVEL 0.37
- CADD 14.50
- PolyPhen-2 1.00
- SIFT 0.21
- ClinVar: Likely benign (Inborn genetic diseases)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- 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)