A21A (p.Ala21Ala) variant of CACNA1B (Q00975)
A21A (p.Ala21Ala) in CACNA1B (Q00975) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
A21A (p.Ala21Ala) variant details
- p.Ala21Ala
- rs748315878
- gnomAD 9-137877996-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.309
- CADD 12.30
- Most common in the HGDP:MAKRANI population (allele frequency 0.025)
- Structural context available
- Literature evidence available