V31F (p.Val31Phe) variant of ACAN (Aggrecan core protein)
V31F (p.Val31Phe) in ACAN (Aggrecan core protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Short stature and advanced bone age, with or without early-onset osteoarthritis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes structural context.
V31F (p.Val31Phe) variant details
- p.Val31Phe
- rs1041254006
- ClinGen CA393714714
- cosmic curated COSV10967
- ClinVar RCV002226435
- Uncertain significance
- Short stature and advanced bone age, with or without early-onset osteoarthritis
- Missense
- Variant Prioritization Score for Impact Estimate 0.291
- AlphaMissense 0.72
- MetaLR 0.06
- MetaSVM -1.13
- PolyPhen-2 0.95
- SIFT 0.00
- EVE 0.13
- ClinVar: Uncertain significance (Short stature and advanced bone age, with or without early-onset)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available