N28S (p.Asn28Ser) variant of CHAMP1 (Q96JM3)
N28S (p.Asn28Ser) in CHAMP1 (Q96JM3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
N28S (p.Asn28Ser) variant details
- p.Asn28Ser
- Ensembl rs2139418089
- Missense
- Variant Prioritization Score for Impact Estimate 0.204
- REVEL 0.13
- ESM-1b 0.00
- AlphaMissense 0.09
- MetaLR 0.01
- MetaSVM -0.60
- CADD 22.60
- Most common in the African/African-American population (allele frequency 6e-05)
- Structural context available