V29I (p.Val29Ile) variant of CHAMP1 (Q96JM3)
V29I (p.Val29Ile) in CHAMP1 (Q96JM3) 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 0.23 / 1. The record also includes population frequency data and structural context.
V29I (p.Val29Ile) variant details
- p.Val29Ile
- rs2139418101
- ClinVar RCV004576080
- Ensembl rs2139418101
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.228
- REVEL 0.07
- ESM-1b 0.00
- AlphaMissense 0.08
- MetaLR 0.00
- MetaSVM -0.55
- CADD 15.50
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:UYGUR population (allele frequency 0.083)
- Structural context available