N85I (p.Asn85Ile) variant of CACNA1A (O00555)
N85I (p.Asn85Ile) in CACNA1A (O00555) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data and structural context.
N85I (p.Asn85Ile) variant details
- p.Asn85Ile
- ExAC rs746902081
- gnomAD rs746902081
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.668
- REVEL 0.76
- MetaLR 0.64
- MetaSVM 0.43
- CADD 25.80
- PolyPhen-2 1.00
- SIFT 0.00
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- Structural context available