N44S (p.Asn44Ser) variant of CACNA1D (Q01668)
N44S (p.Asn44Ser) in CACNA1D (Q01668) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
N44S (p.Asn44Ser) variant details
- p.Asn44Ser
- gnomAD 3-53497215-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.371
- REVEL 0.27
- MetaLR 0.66
- MetaSVM -0.22
- CADD 18.00
- PolyPhen-2 0.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available