S71R (p.Ser71Arg) variant of KRT17 (Keratin, type I cytoskeletal 17)
S71R (p.Ser71Arg) in KRT17 (Keratin, type I cytoskeletal 17) 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 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
S71R (p.Ser71Arg) variant details
- p.Ser71Arg
- rs371521134
- ClinGen CA8563818
- ClinVar RCV002980651
- ESP rs371521134
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.35
- REVEL 0.20
- CADD 17.70
- PolyPhen-2 0.04
- SIFT 0.38
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- 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)