A12S (p.Ala12Ser) variant of CHAMP1 (Q96JM3)
A12S (p.Ala12Ser) in CHAMP1 (Q96JM3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data and structural context.
A12S (p.Ala12Ser) variant details
- p.Ala12Ser
- ESP rs374161591
- ExAC rs374161591
- TOPMed rs374161591
- Missense
- Variant Prioritization Score for Impact Estimate 0.126
- REVEL 0.03
- ESM-1b 0.00
- AlphaMissense 0.07
- MetaLR 0.00
- MetaSVM -0.90
- CADD 10.80
- Most common in the 1KG:CEU population (allele frequency 0.0042)
- Structural context available