K72R (p.Lys72Arg) variant of CHAMP1 (Q96JM3)
K72R (p.Lys72Arg) in CHAMP1 (Q96JM3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
K72R (p.Lys72Arg) variant details
- p.Lys72Arg
- ExAC rs782058113
- gnomAD rs782058113
- Missense
- Variant Prioritization Score for Impact Estimate 0.434
- REVEL 0.28
- ESM-1b 0.99
- AlphaMissense 0.27
- MetaLR 0.01
- MetaSVM -0.75
- CADD 26.20
- Most common in the Non-Finnish European population (allele frequency 0.00046)
- Structural context available