S14N (p.Ser14Asn) variant of MMAB (Q96EY8)
S14N (p.Ser14Asn) 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 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
S14N (p.Ser14Asn) variant details
- p.Ser14Asn
- rs755568905
- ClinGen CA6779081
- ClinVar RCV001314546
- ExAC rs755568905
- Uncertain significance
- Methylmalonic aciduria, cblB type
- Missense
- Variant Prioritization Score for Impact Estimate 0.345
- REVEL 0.09
- ESM-1b 1.00
- AlphaMissense 0.12
- CADD 21.10
- PolyPhen-2 0.02
- SIFT 0.04
- ClinVar: Uncertain significance (Methylmalonic aciduria, cblB type)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available
- Cited in: Isolated Methylmalonic Acidemia. (PMID 20301409)