D29G (p.Asp29Gly) variant of NFE2L2 (Q16236)
D29G (p.Asp29Gly) in NFE2L2 (Q16236) is a missense change. Clinical records from EBI and UniProt describe it as likely pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1.
D29G (p.Asp29Gly) variant details
- p.Asp29Gly
- rs1057519921
- NCI-TCGA Cosmic COSV6796
- cosmic curated COSV67960
- Likely pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.411
- AlphaMissense 0.95
- MetaLR 0.24
- MetaSVM -0.51
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.60
- EBI: Likely pathogenic
- UniProt: Likely pathogenic