F107V (p.Phe107Val) variant of COL5A2 (Collagen alpha-2(V) chain)
F107V (p.Phe107Val) in COL5A2 (Collagen alpha-2(V) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified; not provided; Ehlers-Danlos syndrome, classic type, 1. 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.
F107V (p.Phe107Val) variant details
- p.Phe107Val
- rs778501601
- ClinGen CA349867275
- ClinVar RCV000788223
- ClinVar RCV001869203
- Uncertain significance
- not specified; not provided; Ehlers-Danlos syndrome, classic type, 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.387
- REVEL 0.47
- CADD 16.80
- PolyPhen-2 0.01
- SIFT 0.50
- ClinVar: Uncertain significance (not specified; not provided; Ehlers-Danlos syndrome, classic typ)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available
- Cited in: Classic Ehlers-Danlos Syndrome. (PMID 20301422)