P99L (p.Pro99Leu) variant of CACNA1A (O00555)
P99L (p.Pro99Leu) in CACNA1A (O00555) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data and structural context.
P99L (p.Pro99Leu) variant details
- p.Pro99Leu
- cosmic curated COSV10527
- ExAC rs763303899
- gnomAD rs763303899
- Missense
- Variant Prioritization Score for Impact Estimate 0.731
- REVEL 0.69
- MetaLR 0.67
- MetaSVM 0.41
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available