M10T (p.Met10Thr) variant of CACNA1D (Q01668)
M10T (p.Met10Thr) in CACNA1D (Q01668) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
M10T (p.Met10Thr) variant details
- p.Met10Thr
- ExAC rs748012202
- gnomAD rs748012202
- Missense
- Variant Prioritization Score for Impact Estimate 0.487
- REVEL 0.42
- MetaLR 0.60
- MetaSVM -0.17
- CADD 23.50
- PolyPhen-2 0.00
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available