A69S (p.Ala69Ser) variant of CACNA1S (Q13698)
A69S (p.Ala69Ser) in CACNA1S (Q13698) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data and structural context.
A69S (p.Ala69Ser) variant details
- p.Ala69Ser
- cosmic curated COSV62938
- gnomAD rs1279858225
- Missense
- Variant Prioritization Score for Impact Estimate 0.694
- REVEL 0.63
- CADD 25.60
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available