F82V (p.Phe82Val) variant of COL2A1 (Collagen alpha-1(II) chain)
F82V (p.Phe82Val) in COL2A1 (Collagen alpha-1(II) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes structural context.
F82V (p.Phe82Val) variant details
- p.Phe82Val
- rs2136636961
- ClinGen CA384525993
- ClinVar RCV002002856
- Ensembl rs2136636961
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.388
- AlphaMissense 0.14
- MetaLR 0.24
- MetaSVM -0.70
- PolyPhen-2 0.13
- SIFT 0.51
- MutPred 0.40
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available