A27D (p.Ala27Asp) variant of COL4A3 (Collagen alpha-3(IV) chain)
A27D (p.Ala27Asp) in COL4A3 (Collagen alpha-3(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; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data, published literature, and structural context.
A27D (p.Ala27Asp) variant details
- p.Ala27Asp
- rs1244132148
- ClinGen CA350846267
- ClinVar RCV003732896
- ClinVar RCV005545085
- Uncertain significance
- Inborn genetic diseases; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.151
- REVEL 0.16
- CADD 7.49
- PolyPhen-2 0.03
- SIFT 0.61
- 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 4.7e-06)
- 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)