N129K (p.Asn129Lys) variant of COMP (P49747)
N129K (p.Asn129Lys) in COMP (P49747) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data and structural context.
N129K (p.Asn129Lys) variant details
- p.Asn129Lys
- ExAC rs758922573
- gnomAD rs758922573
- Missense
- Variant Prioritization Score for Impact Estimate 0.591
- REVEL 0.68
- ESM-1b 1.00
- AlphaMissense 0.81
- CADD 23.80
- PolyPhen-2 0.34
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available