L94F (p.Leu94Phe) variant of CACNA1S (Q13698)
L94F (p.Leu94Phe) in CACNA1S (Q13698) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data and structural context.
L94F (p.Leu94Phe) variant details
- p.Leu94Phe
- gnomAD rs1196842684
- Missense
- Variant Prioritization Score for Impact Estimate 0.738
- REVEL 0.76
- CADD 24.00
- PolyPhen-2 0.29
- SIFT 0.01
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available