V34I (p.Val34Ile) variant of KRT14 (Keratin, type I cytoskeletal 14)
V34I (p.Val34Ile) in KRT14 (Keratin, type I cytoskeletal 14) 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 0.11 / 1. The record also includes population frequency data, published literature, and structural context.
V34I (p.Val34Ile) variant details
- p.Val34Ile
- rs762702328
- ClinGen CA8562819
- NCI-TCGA Cosmic COSV5142
- ClinVar RCV002922571
- Uncertain significance
- Inborn genetic diseases; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.106
- REVEL 0.04
- CADD 8.79
- PolyPhen-2 0.00
- SIFT 0.43
- ClinVar: Uncertain significance (Inborn genetic diseases; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.0032)
- 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)