S11L (p.Ser11Leu) variant of CHAMP1 (Q96JM3)
S11L (p.Ser11Leu) in CHAMP1 (Q96JM3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
S11L (p.Ser11Leu) variant details
- p.Ser11Leu
- TOPMed rs1193198344
- gnomAD rs1193198344
- Missense
- Variant Prioritization Score for Impact Estimate 0.263
- REVEL 0.13
- ESM-1b 0.00
- AlphaMissense 0.08
- MetaLR 0.00
- MetaSVM -0.89
- CADD 19.60
- Most common in the HGDP:UYGUR population (allele frequency 0.083)
- Structural context available