F22L (p.Phe22Leu) variant of MMAB (Q96EY8)
F22L (p.Phe22Leu) in MMAB (Q96EY8) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Methylmalonic aciduria, cblB type. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
F22L (p.Phe22Leu) variant details
- p.Phe22Leu
- rs765869812
- ClinGen CA6779070
- ClinVar RCV003068281
- ExAC rs765869812
- Uncertain significance
- Methylmalonic aciduria, cblB type
- Missense
- Variant Prioritization Score for Impact Estimate 0.179
- REVEL 0.25
- ESM-1b 0.00
- AlphaMissense 0.21
- CADD 0.92
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Uncertain significance (Methylmalonic aciduria, cblB type)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available
- Cited in: Isolated Methylmalonic Acidemia. (PMID 20301409)