A52A (p.Ala52Ala) variant of ATL1 (Atlastin-1)
A52A (p.Ala52Ala) in ATL1 (Atlastin-1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data, published literature, and structural context.
A52A (p.Ala52Ala) variant details
- p.Ala52Ala
- gnomAD 14-50587952-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.101
- CADD 2.81
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available
- Literature evidence available