P28H (p.Pro28His) variant of CACNA1S (Q13698)
P28H (p.Pro28His) in CACNA1S (Q13698) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. 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.
P28H (p.Pro28His) variant details
- p.Pro28His
- cosmic curated COSV62945
- ExAC rs747041937
- gnomAD rs747041937
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.463
- REVEL 0.30
- CADD 27.70
- PolyPhen-2 0.78
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- Structural context available