P98S (p.Pro98Ser) variant of CACNA1A (O00555)
P98S (p.Pro98Ser) in CACNA1A (O00555) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
P98S (p.Pro98Ser) variant details
- p.Pro98Ser
- ExAC rs752452147
- gnomAD rs752452147
- Missense
- Variant Prioritization Score for Impact Estimate 0.458
- REVEL 0.30
- MetaLR 0.33
- MetaSVM -0.75
- CADD 25.10
- PolyPhen-2 0.37
- SIFT 0.00
- Most common in the South Asian population (allele frequency 0.00044)
- Structural context available