L57P (p.Leu57Pro) variant of COL6A3 (Collagen alpha-3(VI) chain)
L57P (p.Leu57Pro) in COL6A3 (Collagen alpha-3(VI) 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 0.69 / 1. The record also includes population frequency data, published literature, and structural context.
L57P (p.Leu57Pro) variant details
- p.Leu57Pro
- rs759937318
- ClinGen CA351228286
- ClinVar RCV003887359
- ClinVar RCV005545151
- Uncertain significance
- Inborn genetic diseases; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.685
- REVEL 0.77
- MetaLR 0.70
- MetaSVM 0.14
- CADD 24.70
- PolyPhen-2 0.94
- SIFT 0.03
- ClinVar: Uncertain significance (Inborn genetic diseases; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 4.8e-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)