S20N (p.Ser20Asn) variant of CHAMP1 (Q96JM3)
S20N (p.Ser20Asn) in CHAMP1 (Q96JM3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data and structural context.
S20N (p.Ser20Asn) variant details
- p.Ser20Asn
- gnomAD rs2087203674
- Missense
- Variant Prioritization Score for Impact Estimate 0.111
- REVEL 0.06
- ESM-1b 0.00
- AlphaMissense 0.07
- MetaLR 0.00
- MetaSVM -0.91
- CADD 8.51
- Most common in the 1KG:CLM population (allele frequency 0.043)
- Structural context available