L36P (p.Leu36Pro) variant of AVPR2 (Vasopressin V2 receptor)
L36P (p.Leu36Pro) in AVPR2 (Vasopressin V2 receptor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes structural context.
L36P (p.Leu36Pro) variant details
- p.Leu36Pro
- rs2148514200
- ClinGen CA415103388
- ClinVar RCV002049533
- Ensembl rs2148514200
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.467
- AlphaMissense 0.35
- MetaLR 0.23
- MetaSVM -0.63
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.72
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available