M1V (p.Met1Val) variant of COMP (P49747)
M1V (p.Met1Val) in COMP (P49747) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Carpal tunnel syndrome 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes structural context.
M1V (p.Met1Val) variant details
- p.Met1Val
- rs2145906023
- ClinGen CA404900075
- ClinVar RCV001543623
- Uncertain significance
- Carpal tunnel syndrome 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.575
- ESM-1b 1.00
- AlphaMissense 0.07
- MetaLR 0.45
- MetaSVM -0.14
- PolyPhen-2 0.32
- SIFT 0.00
- ClinVar: Uncertain significance (Carpal tunnel syndrome 2)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available