Y79S (p.Tyr79Ser) variant of CHAMP1 (Q96JM3)
Y79S (p.Tyr79Ser) in CHAMP1 (Q96JM3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
Y79S (p.Tyr79Ser) variant details
- p.Tyr79Ser
- gnomAD 13-114324078-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.464
- REVEL 0.25
- ESM-1b 1.00
- AlphaMissense 0.35
- CADD 26.00
- PolyPhen-2 0.75
- SIFT 0.01
- Most common in the HGDP:MBUTI population (allele frequency 0.042)
- Structural context available
- Literature evidence available