P39T (p.Pro39Thr) variant of CACNA1S (Q13698)
P39T (p.Pro39Thr) in CACNA1S (Q13698) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data and structural context.
P39T (p.Pro39Thr) variant details
- p.Pro39Thr
- ExAC rs749891107
- gnomAD rs749891107
- Missense
- Variant Prioritization Score for Impact Estimate 0.666
- REVEL 0.66
- CADD 27.10
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available