I36F (p.Ile36Phe) variant of CHAMP1 (Q96JM3)
I36F (p.Ile36Phe) in CHAMP1 (Q96JM3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
I36F (p.Ile36Phe) variant details
- p.Ile36Phe
- rs781988354
- ClinGen CA7070585
- ClinVar RCV000504461
- ExAC rs781988354
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.322
- REVEL 0.14
- ESM-1b 0.00
- AlphaMissense 0.25
- MetaLR 0.01
- MetaSVM -0.71
- CADD 23.30
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:UYGUR population (allele frequency 0.083)
- Structural context available