A92V (p.Ala92Val) variant of COMP (P49747)
A92V (p.Ala92Val) in COMP (P49747) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
A92V (p.Ala92Val) variant details
- p.Ala92Val
- ExAC rs752108052
- gnomAD rs752108052
- Missense
- Variant Prioritization Score for Impact Estimate 0.236
- REVEL 0.23
- ESM-1b 0.00
- AlphaMissense 0.08
- CADD 16.00
- PolyPhen-2 0.00
- SIFT 0.31
- Most common in the Finnish in Finland (FIN) population (allele frequency 2.4e-05)
- Structural context available