A12T (p.Ala12Thr) variant of CHAMP1 (Q96JM3)
A12T (p.Ala12Thr) 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.
A12T (p.Ala12Thr) variant details
- p.Ala12Thr
- ESP rs374161591
- ExAC rs374161591
- TOPMed rs374161591
- Missense
- Variant Prioritization Score for Impact Estimate 0.131
- REVEL 0.03
- ESM-1b 0.00
- AlphaMissense 0.07
- MetaLR 0.00
- MetaSVM -0.90
- CADD 13.10
- Most common in the African/African-American population (allele frequency 6e-05)
- Structural context available