M33V (p.Met33Val) variant of CHAMP1 (Q96JM3)
M33V (p.Met33Val) in CHAMP1 (Q96JM3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
M33V (p.Met33Val) variant details
- p.Met33Val
- ExAC rs782387383
- TOPMed rs782387383
- gnomAD rs782387383
- Missense
- Variant Prioritization Score for Impact Estimate 0.227
- REVEL 0.14
- ESM-1b 0.00
- AlphaMissense 0.09
- MetaLR 0.01
- MetaSVM -0.77
- CADD 21.30
- Most common in the Non-Finnish European population (allele frequency 0.00035)
- Structural context available