L34P (p.Leu34Pro) variant of CACNA1D (Q01668)
L34P (p.Leu34Pro) in CACNA1D (Q01668) 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 0.38 / 1. The record also includes population frequency data and structural context.
L34P (p.Leu34Pro) variant details
- p.Leu34Pro
- rs1431557212
- ClinGen CA353381746
- ClinVar RCV003028302
- gnomAD rs1431557212
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.381
- REVEL 0.25
- MetaLR 0.75
- MetaSVM -0.36
- CADD 22.90
- PolyPhen-2 0.00
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available