N42K (p.Asn42Lys) variant of COMP (P49747)
N42K (p.Asn42Lys) in COMP (P49747) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
N42K (p.Asn42Lys) variant details
- p.Asn42Lys
- ExAC rs761363648
- gnomAD rs761363648
- Missense
- Variant Prioritization Score for Impact Estimate 0.247
- REVEL 0.10
- ESM-1b 1.00
- AlphaMissense 0.29
- CADD 16.90
- PolyPhen-2 0.09
- SIFT 0.15
- Population evidence available
- Structural context available