T82A (p.Thr82Ala) variant of CHAMP1 (Q96JM3)
T82A (p.Thr82Ala) in CHAMP1 (Q96JM3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
T82A (p.Thr82Ala) variant details
- p.Thr82Ala
- 1000Genomes rs576015545
- Missense
- Variant Prioritization Score for Impact Estimate 0.381
- REVEL 0.18
- ESM-1b 1.00
- AlphaMissense 0.22
- MetaLR 0.01
- MetaSVM -0.84
- CADD 24.90
- Most common in the 1KG:CEU population (allele frequency 0.0042)
- Structural context available