L30P (p.Leu30Pro) variant of NFE2L2 (Q16236)
L30P (p.Leu30Pro) in NFE2L2 (Q16236) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Immunodeficiency, developmental delay, and hypohomocysteinemia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1.
L30P (p.Leu30Pro) variant details
- p.Leu30Pro
- rs2105459482
- ClinGen CA349381840
- NCI-TCGA Cosmic COSV1012
- cosmic curated COSV10122
- Conflicting interpretations
- not provided; Immunodeficiency, developmental delay, and hypohomocysteinemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.412
- AlphaMissense 0.93
- MetaLR 0.28
- MetaSVM -0.41
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.47
- ClinVar: Conflicting classifications of pathogenicity (not provided; Immunodeficiency, developmental delay, and hypohom)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic