R136P (p.Arg136Pro) variant of MMAB (Q96EY8)
R136P (p.Arg136Pro) in MMAB (Q96EY8) 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 0.66 / 1. The record also includes population frequency data and structural context.
R136P (p.Arg136Pro) variant details
- p.Arg136Pro
- TOPMed rs796051994
- gnomAD rs796051994
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.665
- REVEL 0.63
- ESM-1b 1.00
- AlphaMissense 0.57
- CADD 23.10
- PolyPhen-2 0.11
- SIFT 0.08
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
- Structural context available