N11N (p.Asn11Asn) variant of BEST1 (Bestrophin-1)
N11N (p.Asn11Asn) in BEST1 (Bestrophin-1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
N11N (p.Asn11Asn) variant details
- p.Asn11Asn
- rs281865531
- gnomAD 11-61951839-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.393
- AlphaMissense 0.51
- MetaLR 0.93
- MetaSVM 0.84
- CADD 14.10
- PolyPhen-2 0.96
- SIFT 0.06
- Most common in the African/African-American population (allele frequency 7.2e-05)
- Structural context available
- Literature evidence available