D104A (p.Asp104Ala) variant of CHAMP1 (Q96JM3)
D104A (p.Asp104Ala) in CHAMP1 (Q96JM3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
D104A (p.Asp104Ala) variant details
- p.Asp104Ala
- Ensembl rs541872327
- Missense
- Variant Prioritization Score for Impact Estimate 0.244
- REVEL 0.07
- ESM-1b 0.00
- AlphaMissense 0.14
- MetaLR 0.00
- MetaSVM -0.93
- CADD 23.60
- Most common in the HGDP:JAPANESE population (allele frequency 0.018)
- Structural context available