D17Y (p.Asp17Tyr) variant of CHAMP1 (Q96JM3)
D17Y (p.Asp17Tyr) in CHAMP1 (Q96JM3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
D17Y (p.Asp17Tyr) variant details
- p.Asp17Tyr
- gnomAD 13-114323891-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.451
- REVEL 0.20
- ESM-1b 1.00
- AlphaMissense 0.26
- CADD 26.40
- PolyPhen-2 0.96
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Literature evidence available