M4T (p.Met4Thr) variant of CACNA1D (Q01668)
M4T (p.Met4Thr) in CACNA1D (Q01668) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and structural context.
M4T (p.Met4Thr) variant details
- p.Met4Thr
- cosmic curated COSV55438
- TOPMed rs1318703211
- Missense
- Variant Prioritization Score for Impact Estimate 0.535
- REVEL 0.47
- MetaLR 0.71
- MetaSVM 0.25
- CADD 23.70
- PolyPhen-2 0.04
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available