P10A (p.Pro10Ala) variant of CHAMP1 (Q96JM3)
P10A (p.Pro10Ala) 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.
P10A (p.Pro10Ala) variant details
- p.Pro10Ala
- TOPMed rs1261183462
- gnomAD rs1261183462
- Missense
- Variant Prioritization Score for Impact Estimate 0.13
- REVEL 0.04
- ESM-1b 0.00
- AlphaMissense 0.06
- MetaLR 0.00
- MetaSVM -0.89
- CADD 9.28
- Most common in the Non-Finnish European population (allele frequency 0.00046)
- Structural context available