L231V (p.Leu231Val) variant of CACNA2D2 (Q9NY47)
L231V (p.Leu231Val) in CACNA2D2 (Q9NY47) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Early-infantile DEE. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
L231V (p.Leu231Val) variant details
- p.Leu231Val
- rs587617827
- ClinGen CA352940516
- ClinVar RCV006560460
- Uncertain significance
- Early-infantile DEE
- Missense
- Variant Prioritization Score for Impact Estimate 0.35
- REVEL 0.33
- MetaLR 0.11
- MetaSVM -1.00
- CADD 23.20
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Uncertain significance (Early-infantile DEE)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available