P43L (p.Pro43Leu) variant of MAGED2 (Melanoma-associated antigen D2)
P43L (p.Pro43Leu) in MAGED2 (Melanoma-associated antigen D2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Inborn genetic diseases; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
P43L (p.Pro43Leu) variant details
- p.Pro43Leu
- rs201160051
- ClinGen CA10426642
- NCI-TCGA Cosmic COSV9951
- cosmic curated COSV99514
- Conflicting interpretations
- Inborn genetic diseases; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.28
- REVEL 0.03
- CADD 8.70
- PolyPhen-2 0.00
- SIFT 0.05
- ClinVar: Conflicting classifications of pathogenicity (Inborn genetic diseases; not provided)
- EBI: Benign
- UniProt: Benign
- Most common in the HGDP:TU population (allele frequency 0.077)
- 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)