Y12D (p.Tyr12Asp) variant of CACNA1B (Q00975)
Y12D (p.Tyr12Asp) in CACNA1B (Q00975) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data, published literature, and structural context.
Y12D (p.Tyr12Asp) variant details
- p.Tyr12Asp
- gnomAD 9-137877967-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.609
- REVEL 0.62
- MetaLR 0.88
- MetaSVM 0.84
- CADD 25.50
- PolyPhen-2 0.72
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available