I45N (p.Ile45Asn) variant of BEST1 (Bestrophin-1)
I45N (p.Ile45Asn) in BEST1 (Bestrophin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
I45N (p.Ile45Asn) variant details
- p.Ile45Asn
- gnomAD 11-61951940-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.325
- REVEL 0.53
- CADD 0.08
- PolyPhen-2 0.09
- SIFT 0.17
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available
- Literature evidence available