S84L (p.Ser84Leu) variant of MAGED2 (Melanoma-associated antigen D2)
S84L (p.Ser84Leu) in MAGED2 (Melanoma-associated antigen D2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
S84L (p.Ser84Leu) variant details
- p.Ser84Leu
- rs745432175
- ClinGen CA10426658
- cosmic curated COSV54496
- ClinVar RCV003381207
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.177
- REVEL 0.04
- CADD 20.30
- PolyPhen-2 0.94
- SIFT 0.20
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 4.8e-06)
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)