A46V (p.Ala46Val) variant of CHAMP1 (Q96JM3)
A46V (p.Ala46Val) in CHAMP1 (Q96JM3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
A46V (p.Ala46Val) variant details
- p.Ala46Val
- gnomAD 13-114323979-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.372
- REVEL 0.18
- ESM-1b 0.00
- AlphaMissense 0.17
- CADD 23.30
- PolyPhen-2 0.65
- SIFT 0.08
- Population evidence available
- Structural context available
- Literature evidence available