K44E (p.Lys44Glu) variant of MAGED2 (Melanoma-associated antigen D2)
K44E (p.Lys44Glu) in MAGED2 (Melanoma-associated antigen D2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign/likely benign in the context of not provided. 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.
K44E (p.Lys44Glu) variant details
- p.Lys44Glu
- rs11555928
- ClinGen CA10426644
- cosmic curated COSV10726
- ClinVar RCV000513922
- Benign/Likely benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.29
- REVEL 0.22
- CADD 19.70
- PolyPhen-2 0.95
- SIFT 0.14
- ClinVar: Benign/Likely benign (not provided)
- EBI: Benign
- UniProt: Benign
- Most common in the HGDP:PATHAN population (allele frequency 0.036)
- Structural context available