M2T (p.Met2Thr) variant of CACNA1D (Q01668)
M2T (p.Met2Thr) in CACNA1D (Q01668) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. 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.
M2T (p.Met2Thr) variant details
- p.Met2Thr
- rs2471494271
- ClinGen CA353381360
- ClinVar RCV003042960
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.526
- REVEL 0.47
- MetaLR 0.67
- MetaSVM 0.17
- CADD 23.50
- PolyPhen-2 0.00
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 6e-05)
- Structural context available