P8L (p.Pro8Leu) variant of MMAA (Q8IVH4)
P8L (p.Pro8Leu) in MMAA (Q8IVH4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Methylmalonic aciduria, cblA type. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
P8L (p.Pro8Leu) variant details
- p.Pro8Leu
- cosmic curated COSV10726
- gnomAD rs1410541695
- Uncertain significance
- Methylmalonic aciduria, cblA type
- Missense
- Variant Prioritization Score for Impact Estimate 0.286
- REVEL 0.24
- ESM-1b 0.00
- AlphaMissense 0.08
- CADD 16.00
- PolyPhen-2 0.00
- SIFT 0.05
- ClinVar: Uncertain significance (Methylmalonic aciduria, cblA type)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available