Y48F (p.Tyr48Phe) variant of COL6A2 (Collagen alpha-2(VI) chain)
Y48F (p.Tyr48Phe) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
Y48F (p.Tyr48Phe) variant details
- p.Tyr48Phe
- rs780803351
- ClinGen CA10071220
- ClinVar RCV001765191
- ExAC rs780803351
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.467
- REVEL 0.38
- CADD 22.10
- PolyPhen-2 0.26
- SIFT 0.37
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available