V2F (p.Val2Phe) variant of COMP (P49747)
V2F (p.Val2Phe) in COMP (P49747) 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 0.28 / 1. The record also includes population frequency data and structural context.
V2F (p.Val2Phe) variant details
- p.Val2Phe
- TOPMed rs973791626
- gnomAD rs973791626
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.277
- REVEL 0.23
- ESM-1b 0.00
- AlphaMissense 0.07
- CADD 19.80
- PolyPhen-2 0.06
- SIFT 0.04
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00017)
- Structural context available