Y55N (p.Tyr55Asn) variant of CHAMP1 (Q96JM3)
Y55N (p.Tyr55Asn) in CHAMP1 (Q96JM3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
Y55N (p.Tyr55Asn) variant details
- p.Tyr55Asn
- gnomAD 13-114324005-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.467
- REVEL 0.21
- ESM-1b 1.00
- AlphaMissense 0.99
- CADD 26.20
- PolyPhen-2 0.86
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available