V56A (p.Val56Ala) variant of COMP (P49747)
V56A (p.Val56Ala) 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 0.39 / 1. The record also includes population frequency data and structural context.
V56A (p.Val56Ala) variant details
- p.Val56Ala
- rs1022567248
- ClinGen CA306260805
- ClinVar RCV002031481
- TOPMed rs1022567248
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.393
- REVEL 0.12
- ESM-1b 1.00
- AlphaMissense 0.48
- CADD 25.40
- PolyPhen-2 0.49
- SIFT 0.06
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 4.9e-05)
- Structural context available