F54V (p.Phe54Val) variant of CHAMP1 (Q96JM3)
F54V (p.Phe54Val) in CHAMP1 (Q96JM3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
F54V (p.Phe54Val) variant details
- p.Phe54Val
- gnomAD rs1555379338
- Missense
- Variant Prioritization Score for Impact Estimate 0.409
- REVEL 0.21
- ESM-1b 1.00
- AlphaMissense 0.93
- MetaLR 0.02
- MetaSVM -0.80
- CADD 26.30
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available