N46N (p.Asn46Asn) variant of BLM (RecQ-like DNA helicase BLM)
N46N (p.Asn46Asn) in BLM (RecQ-like DNA helicase BLM) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
N46N (p.Asn46Asn) variant details
- p.Asn46Asn
- rs1895600929
- gnomAD 15-90749406-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.165
- AlphaMissense 0.12
- MetaLR 0.09
- MetaSVM -1.02
- CADD 3.83
- PolyPhen-2 0.02
- SIFT 0.04
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available