P53A (p.Pro53Ala) variant of MMAB (Q96EY8)
P53A (p.Pro53Ala) in MMAB (Q96EY8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
P53A (p.Pro53Ala) variant details
- p.Pro53Ala
- gnomAD rs1884632137
- Missense
- Variant Prioritization Score for Impact Estimate 0.393
- REVEL 0.14
- ESM-1b 0.90
- AlphaMissense 0.06
- CADD 9.49
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available