M67V (p.Met67Val) variant of COMP (P49747)
M67V (p.Met67Val) in COMP (P49747) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
M67V (p.Met67Val) variant details
- p.Met67Val
- ESP rs142742836
- ExAC rs142742836
- TOPMed rs142742836
- gnomAD rs142742836
- Missense
- Variant Prioritization Score for Impact Estimate 0.342
- REVEL 0.17
- ESM-1b 1.00
- AlphaMissense 0.23
- CADD 23.00
- PolyPhen-2 0.10
- SIFT 0.29
- Most common in the African/African-American population (allele frequency 0.00014)
- Structural context available