D29H (p.Asp29His) variant of NFE2L2 (Q16236)
D29H (p.Asp29His) 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 0.42 / 1.
D29H (p.Asp29His) variant details
- p.Asp29His
- rs1057519920
- NCI-TCGA Cosmic COSV6796
- cosmic curated COSV67960
- Likely pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.416
- AlphaMissense 0.91
- MetaLR 0.26
- MetaSVM -0.52
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.56
- EBI: Likely pathogenic
- UniProt: Likely pathogenic