I76L (p.Ile76Leu) variant of KRT1 (Keratin, type II cytoskeletal 1)
I76L (p.Ile76Leu) in KRT1 (Keratin, type II cytoskeletal 1) 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 0.53 / 1. The record also includes published literature and structural context.
I76L (p.Ile76Leu) variant details
- p.Ile76Leu
- rs1941564839
- ClinGen CA384976443
- ClinVar RCV004412167
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.526
- AlphaMissense 0.62
- MetaLR 0.61
- MetaSVM 0.04
- PolyPhen-2 0.00
- SIFT 0.00
- EVE 0.41
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)