V124I (p.Val124Ile) variant of MMAB (Q96EY8)
V124I (p.Val124Ile) 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 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
V124I (p.Val124Ile) variant details
- p.Val124Ile
- rs573706523
- ClinGen CA6778932
- NCI-TCGA Cosmic COSV9990
- cosmic curated COSV99904
- Uncertain significance
- Methylmalonic aciduria, cblB type
- Missense
- Variant Prioritization Score for Impact Estimate 0.144
- REVEL 0.15
- ESM-1b 0.00
- AlphaMissense 0.08
- CADD 7.54
- PolyPhen-2 0.01
- SIFT 0.31
- ClinVar: Uncertain significance (Methylmalonic aciduria, cblB type)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 6.7e-05)
- Structural context available
- Cited in: Isolated Methylmalonic Acidemia. (PMID 20301409)