K30N (p.Lys30Asn) variant of BEST1 (Bestrophin-1)
K30N (p.Lys30Asn) in BEST1 (Bestrophin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data, published literature, and structural context.
K30N (p.Lys30Asn) variant details
- p.Lys30Asn
- gnomAD 11-61951896-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.639
- REVEL 0.91
- CADD 17.40
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available