A12A (p.Ala12Ala) variant of BEST1 (Bestrophin-1)
A12A (p.Ala12Ala) in BEST1 (Bestrophin-1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
A12A (p.Ala12Ala) variant details
- p.Ala12Ala
- rs773151223
- gnomAD 11-61951842-C-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.276
- CADD 16.70
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available
- Literature evidence available