I57V (p.Ile57Val) variant of CACNA1D (Q01668)
I57V (p.Ile57Val) in CACNA1D (Q01668) is a missense change. 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.
I57V (p.Ile57Val) variant details
- p.Ile57Val
- ExAC rs762132463
- gnomAD rs762132463
- Missense
- Variant Prioritization Score for Impact Estimate 0.451
- REVEL 0.30
- MetaLR 0.75
- MetaSVM 0.28
- CADD 22.20
- PolyPhen-2 0.00
- SIFT 0.00
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available