I88F (p.Ile88Phe) variant of COL2A1 (Collagen alpha-1(II) chain)
I88F (p.Ile88Phe) in COL2A1 (Collagen alpha-1(II) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
I88F (p.Ile88Phe) variant details
- p.Ile88Phe
- rs760745824
- ClinGen CA6536066
- ClinVar RCV003546300
- ExAC rs760745824
- Benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.401
- REVEL 0.39
- CADD 22.30
- ClinVar: Benign (not provided)
- EBI: Benign
- UniProt: Benign
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available