T62R (p.Thr62Arg) variant of MMAB (Q96EY8)
T62R (p.Thr62Arg) in MMAB (Q96EY8) is a missense change. Clinical records from EBI and UniProt describe it as benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data and structural context.
T62R (p.Thr62Arg) variant details
- p.Thr62Arg
- 1000Genomes rs115802744
- ESP rs115802744
- ExAC rs115802744
- TOPMed rs115802744
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.847
- REVEL 0.89
- ESM-1b 1.00
- AlphaMissense 0.30
- CADD 29.20
- PolyPhen-2 0.97
- SIFT 0.01
- EBI: Benign
- UniProt: Benign
- Most common in the Non-Finnish European population (allele frequency 7.3e-05)
- Structural context available