P8R (p.Pro8Arg) variant of MMAA (Q8IVH4)
P8R (p.Pro8Arg) in MMAA (Q8IVH4) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. 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.
P8R (p.Pro8Arg) variant details
- p.Pro8Arg
- gnomAD rs1410541695
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.387
- REVEL 0.42
- ESM-1b 0.00
- AlphaMissense 0.06
- CADD 19.10
- PolyPhen-2 0.19
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available