V128I (p.Val128Ile) variant of COMP (P49747)
V128I (p.Val128Ile) in COMP (P49747) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Connective tissue disorder; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
V128I (p.Val128Ile) variant details
- p.Val128Ile
- rs143954978
- ClinGen CA9316756
- ClinVar RCV002154868
- ClinVar RCV002276997
- Conflicting interpretations
- Connective tissue disorder; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.292
- REVEL 0.20
- ESM-1b 0.00
- AlphaMissense 0.06
- CADD 17.40
- PolyPhen-2 0.03
- SIFT 1.00
- ClinVar: Conflicting classifications of pathogenicity (Connective tissue disorder; not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 0.00028)
- Structural context available