A16P (p.Ala16Pro) variant of COL4A5 (Collagen alpha-5(IV) chain)
A16P (p.Ala16Pro) in COL4A5 (Collagen alpha-5(IV) chain) 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 0.55 / 1. The record also includes published literature and structural context.
A16P (p.Ala16Pro) variant details
- p.Ala16Pro
- rs1463628237
- ClinGen CA413905958
- ClinVar RCV002703734
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.553
- AlphaMissense 0.11
- MetaLR 0.64
- MetaSVM 0.16
- PolyPhen-2 0.98
- SIFT 0.40
- MutPred 0.51
- 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)