N25T (p.Asn25Thr) variant of CACNA1D (Q01668)
N25T (p.Asn25Thr) in CACNA1D (Q01668) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
N25T (p.Asn25Thr) variant details
- p.Asn25Thr
- gnomAD rs1415040812
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.41
- REVEL 0.28
- MetaLR 0.81
- MetaSVM 0.12
- CADD 22.10
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available