S75Y (p.Ser75Tyr) variant of KRT5 (Keratin, type II cytoskeletal 5)
S75Y (p.Ser75Tyr) 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; Dowling-Degos disease 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
S75Y (p.Ser75Tyr) variant details
- p.Ser75Tyr
- rs755413229
- ClinGen CA6582892
- ClinVar RCV001262257
- ClinVar RCV002537630
- Uncertain significance
- Inborn genetic diseases; Dowling-Degos disease 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.5
- REVEL 0.38
- CADD 23.60
- PolyPhen-2 0.16
- SIFT 0.00
- ClinVar: Uncertain significance (Inborn genetic diseases; Dowling-Degos disease 1)
- 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)