N121K (p.Asn121Lys) variant of COMP (P49747)
N121K (p.Asn121Lys) 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.
N121K (p.Asn121Lys) variant details
- p.Asn121Lys
- ESP rs372321928
- ExAC rs372321928
- TOPMed rs372321928
- gnomAD rs372321928
- Missense
- Variant Prioritization Score for Impact Estimate 0.344
- REVEL 0.19
- ESM-1b 1.00
- AlphaMissense 0.79
- CADD 26.60
- PolyPhen-2 0.59
- SIFT 0.01
- Population evidence available
- Structural context available