T72N (p.Thr72Asn) variant of MAGED2 (Melanoma-associated antigen D2)
T72N (p.Thr72Asn) in MAGED2 (Melanoma-associated antigen D2) is a missense change. 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.
T72N (p.Thr72Asn) variant details
- p.Thr72Asn
- gnomAD X-54809891-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.339
- REVEL 0.03
- CADD 19.60
- PolyPhen-2 0.07
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available
- Literature evidence available