V48M (p.Val48Met) variant of COMP (P49747)
V48M (p.Val48Met) 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 0.35 / 1. The record also includes population frequency data and structural context.
V48M (p.Val48Met) variant details
- p.Val48Met
- rs1418225765
- ClinGen CA404899748
- cosmic curated COSV10959
- ClinVar RCV003838831
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.345
- REVEL 0.12
- ESM-1b 0.82
- AlphaMissense 0.18
- CADD 21.20
- PolyPhen-2 0.21
- SIFT 0.31
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 6.2e-05)
- Structural context available