G103S (p.Gly103Ser) variant of KRT6B (Keratin, type II cytoskeletal 6B)
G103S (p.Gly103Ser) in KRT6B (Keratin, type II cytoskeletal 6B) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
G103S (p.Gly103Ser) variant details
- p.Gly103Ser
- rs778306714
- ClinGen CA6580892
- ClinVar RCV003391841
- ClinVar RCV004985358
- Uncertain significance
- not provided; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.397
- REVEL 0.26
- CADD 14.70
- PolyPhen-2 0.27
- SIFT 0.20
- ClinVar: Uncertain significance (not provided; Inborn genetic diseases)
- 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)