S24N (p.Ser24Asn) variant of COMP (P49747)
S24N (p.Ser24Asn) in COMP (P49747) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data and structural context.
S24N (p.Ser24Asn) variant details
- p.Ser24Asn
- rs759953553
- ClinGen CA9316852
- ClinVar RCV002597356
- ExAC rs759953553
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.152
- REVEL 0.17
- ESM-1b 0.00
- AlphaMissense 0.07
- CADD 8.42
- PolyPhen-2 0.00
- SIFT 0.37
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available