A2P (p.Ala2Pro) variant of MMAB (Q96EY8)
A2P (p.Ala2Pro) in MMAB (Q96EY8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data and structural context.
A2P (p.Ala2Pro) variant details
- p.Ala2Pro
- TOPMed rs1157166932
- gnomAD rs1157166932
- Missense
- Variant Prioritization Score for Impact Estimate 0.615
- REVEL 0.47
- ESM-1b 1.00
- AlphaMissense 0.16
- CADD 24.90
- PolyPhen-2 0.69
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 4.4e-05)
- Structural context available