V15I (p.Val15Ile) variant of PTPN4 (P29074)
V15I (p.Val15Ile) in PTPN4 (P29074) 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 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
V15I (p.Val15Ile) variant details
- p.Val15Ile
- rs760213839
- ClinGen CA1849168
- ClinVar RCV004445107
- ExAC rs760213839
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.389
- REVEL 0.19
- ESM-1b 0.00
- AlphaMissense 0.17
- MetaLR 0.41
- MetaSVM -0.39
- CADD 23.40
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00022)
- 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)