S81F (p.Ser81Phe) variant of CACNA1S (Q13698)
S81F (p.Ser81Phe) in CACNA1S (Q13698) 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 and structural context.
S81F (p.Ser81Phe) variant details
- p.Ser81Phe
- gnomAD rs1185207877
- Missense
- Variant Prioritization Score for Impact Estimate 0.371
- REVEL 0.28
- CADD 20.30
- PolyPhen-2 0.08
- SIFT 0.06
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available