R19L (p.Arg19Leu) variant of MMAB (Q96EY8)
R19L (p.Arg19Leu) 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 0.40 / 1. The record also includes population frequency data and structural context.
R19L (p.Arg19Leu) variant details
- p.Arg19Leu
- 1000Genomes rs10774775
- ESP rs10774775
- ExAC rs10774775
- TOPMed rs10774775
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.399
- REVEL 0.47
- ESM-1b 0.00
- AlphaMissense 0.14
- CADD 19.80
- PolyPhen-2 0.19
- SIFT 0.07
- EBI: Benign (in dbSNP:rs36013132)
- UniProt: Benign (in dbSNP:rs36013132)
- Most common in the Finnish in Finland (FIN) population (allele frequency 2e-05)
- Structural context available