G25S (p.Gly25Ser) variant of KRT2 (P35908)
G25S (p.Gly25Ser) in KRT2 (P35908) 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 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
G25S (p.Gly25Ser) variant details
- p.Gly25Ser
- rs370724968
- ClinGen CA6585976
- ClinVar RCV002670490
- ESP rs370724968
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.286
- REVEL 0.19
- CADD 15.30
- PolyPhen-2 0.02
- SIFT 0.59
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-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)