I72T (p.Ile72Thr) variant of KRT6A (Keratin, type II cytoskeletal 6A)
I72T (p.Ile72Thr) in KRT6A (Keratin, type II cytoskeletal 6A) 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 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
I72T (p.Ile72Thr) variant details
- p.Ile72Thr
- rs571307633
- ClinGen CA6582314
- ClinVar RCV002749129
- 1000Genomes rs571307633
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.207
- REVEL 0.15
- CADD 20.50
- PolyPhen-2 0.03
- SIFT 0.03
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- 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)