V31I (p.Val31Ile) variant of ACAN (Aggrecan core protein)
V31I (p.Val31Ile) in ACAN (Aggrecan core protein) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data and structural context.
V31I (p.Val31Ile) variant details
- p.Val31Ile
- TOPMed rs1041254006
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.558
- AlphaMissense 0.72
- MetaLR 0.06
- MetaSVM -1.13
- CADD 26.20
- PolyPhen-2 0.95
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available