M73V (p.Met73Val) variant of CHAMP1 (Q96JM3)
M73V (p.Met73Val) in CHAMP1 (Q96JM3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
M73V (p.Met73Val) variant details
- p.Met73Val
- gnomAD 13-114324059-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.267
- REVEL 0.17
- ESM-1b 0.38
- AlphaMissense 0.27
- CADD 17.90
- PolyPhen-2 0.11
- SIFT 0.08
- Population evidence available
- Structural context available
- Literature evidence available