F68L (p.Phe68Leu) variant of COL6A2 (Collagen alpha-2(VI) chain)
F68L (p.Phe68Leu) in COL6A2 (Collagen alpha-2(VI) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
F68L (p.Phe68Leu) variant details
- p.Phe68Leu
- rs766930447
- ClinGen CA10071230
- ClinVar RCV001579928
- ClinVar RCV005809604
- Uncertain significance
- not provided; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.199
- REVEL 0.23
- CADD 12.90
- PolyPhen-2 0.02
- SIFT 0.38
- ClinVar: Uncertain significance (not provided; Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.0007)
- 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)