M316V (p.Met316Val) variant of PCCB (P05166)
M316V (p.Met316Val) in PCCB (P05166) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Propionic acidemia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data, published literature, and structural context.
M316V (p.Met316Val) variant details
- p.Met316Val
- rs751257723
- ClinGen CA2631946
- ClinVar RCV003111884
- ExAC rs751257723
- Uncertain significance
- Propionic acidemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.779
- REVEL 0.90
- ESM-1b 1.00
- AlphaMissense 0.14
- CADD 25.00
- PolyPhen-2 0.56
- SIFT 0.04
- ClinVar: Uncertain significance (Propionic acidemia)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available
- Cited in: Propionic Acidemia. (PMID 22593918)