G23V (p.Gly23Val) variant of CHAMP1 (Q96JM3)
G23V (p.Gly23Val) in CHAMP1 (Q96JM3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data, published literature, and structural context.
G23V (p.Gly23Val) variant details
- p.Gly23Val
- gnomAD 13-114323910-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.618
- REVEL 0.40
- ESM-1b 1.00
- AlphaMissense 0.92
- CADD 26.10
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the HGDP:SHE population (allele frequency 0.11)
- Structural context available
- Literature evidence available