F4V (p.Phe4Val) variant of CHAMP1 (Q96JM3)
F4V (p.Phe4Val) in CHAMP1 (Q96JM3) is a missense change. Clinical records from ClinVar 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 0.18 / 1. The record also includes population frequency data and structural context.
F4V (p.Phe4Val) variant details
- p.Phe4Val
- ExAC rs782131661
- TOPMed rs782131661
- gnomAD rs782131661
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.18
- REVEL 0.04
- ESM-1b 0.00
- AlphaMissense 0.07
- MetaLR 0.00
- MetaSVM -0.90
- CADD 22.10
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available