Y12N (p.Tyr12Asn) variant of CACNA1B (Q00975)
Y12N (p.Tyr12Asn) in CACNA1B (Q00975) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
Y12N (p.Tyr12Asn) variant details
- p.Tyr12Asn
- gnomAD 9-137877967-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.593
- REVEL 0.59
- MetaLR 0.88
- MetaSVM 0.83
- CADD 25.40
- PolyPhen-2 0.72
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 2.4e-06)
- Structural context available
- Literature evidence available