I81V (p.Ile81Val) variant of CHAMP1 (Q96JM3)
I81V (p.Ile81Val) in CHAMP1 (Q96JM3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
I81V (p.Ile81Val) variant details
- p.Ile81Val
- gnomAD rs1555379347
- Missense
- Variant Prioritization Score for Impact Estimate 0.248
- REVEL 0.17
- ESM-1b 0.00
- AlphaMissense 0.15
- MetaLR 0.01
- MetaSVM -0.67
- CADD 22.80
- Most common in the HGDP:SHE population (allele frequency 0.11)
- Structural context available