D58N (p.Asp58Asn) variant of CACNA1D (Q01668)
D58N (p.Asp58Asn) 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 0.45 / 1. The record also includes population frequency data and structural context.
D58N (p.Asp58Asn) variant details
- p.Asp58Asn
- rs1471359438
- ClinGen CA353381893
- cosmic curated COSV99859
- ClinVar RCV001889331
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.449
- REVEL 0.27
- MetaLR 0.75
- MetaSVM 0.31
- CADD 22.60
- 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 0.00013)
- Structural context available