Y12S (p.Tyr12Ser) variant of CACNA1B (Q00975)
Y12S (p.Tyr12Ser) in CACNA1B (Q00975) 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, published literature, and structural context.
Y12S (p.Tyr12Ser) variant details
- p.Tyr12Ser
- gnomAD 9-137877968-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.534
- REVEL 0.51
- MetaLR 0.83
- MetaSVM 0.66
- CADD 24.40
- PolyPhen-2 0.46
- SIFT 0.01
- Most common in the Finnish in Finland (FIN) population (allele frequency 5.6e-05)
- Structural context available
- Literature evidence available