A101T (p.Ala101Thr) variant of KRT5 (Keratin, type II cytoskeletal 5)
A101T (p.Ala101Thr) 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; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
A101T (p.Ala101Thr) variant details
- p.Ala101Thr
- rs372204272
- ClinGen CA6582872
- ClinVar RCV002571058
- ClinVar RCV003164789
- Uncertain significance
- Inborn genetic diseases; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.184
- REVEL 0.07
- CADD 17.60
- PolyPhen-2 0.00
- SIFT 0.14
- ClinVar: Uncertain significance (Inborn genetic diseases; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.9e-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)