A371V (p.Ala371Val) variant of CUL3 (Cullin-3)
A371V (p.Ala371Val) in CUL3 (Cullin-3) is a missense change. Clinical records from ClinVar and UniProt describe it as likely pathogenic in the context of Pseudohypoaldosteronism type 2E. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
A371V (p.Ala371Val) variant details
- p.Ala371Val
- cosmic curated COSV52361
- Ensembl rs2106203325
- Likely pathogenic
- Pseudohypoaldosteronism type 2E
- Missense
- Variant Prioritization Score for Impact Estimate 0.425
- REVEL 0.20
- CADD 23.20
- PolyPhen-2 0.08
- SIFT 0.11
- ClinVar: Likely pathogenic (Pseudohypoaldosteronism type 2E)
- UniProt: Likely pathogenic
- Most common in the HGDP:YAKUT population (allele frequency 0.04)
- Structural context available