S79P (p.Ser79Pro) variant of MMAA (Q8IVH4)
S79P (p.Ser79Pro) in MMAA (Q8IVH4) is a missense change. Clinical records from ClinVar and UniProt describe it as likely pathogenic in the context of Methylmalonic aciduria, cblA type. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
S79P (p.Ser79Pro) variant details
- p.Ser79Pro
- ExAC rs752876551
- gnomAD rs752876551
- Likely pathogenic
- Methylmalonic aciduria, cblA type
- Missense
- Variant Prioritization Score for Impact Estimate 0.487
- REVEL 0.47
- ESM-1b 0.52
- AlphaMissense 0.16
- CADD 23.70
- PolyPhen-2 0.40
- SIFT 0.03
- ClinVar: Likely pathogenic (Methylmalonic aciduria, cblA type)
- UniProt: Likely pathogenic
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available