I41V (p.Ile41Val) variant of CUL3 (Cullin-3)
I41V (p.Ile41Val) in CUL3 (Cullin-3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Pseudohypoaldosteronism type 2E; Neurodevelopmental disorder with or without aut. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data and structural context.
I41V (p.Ile41Val) variant details
- p.Ile41Val
- ExAC rs756230201
- gnomAD rs756230201
- Uncertain significance
- Pseudohypoaldosteronism type 2E; Neurodevelopmental disorder with or without aut
- Missense
- Variant Prioritization Score for Impact Estimate 0.523
- REVEL 0.44
- CADD 25.40
- PolyPhen-2 1.00
- SIFT 0.02
- ClinVar: Uncertain significance (Pseudohypoaldosteronism type 2E; Neurodevelopmental disorder wit)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available