P28P (p.Pro28Pro) variant of ATL1 (Atlastin-1)
P28P (p.Pro28Pro) in ATL1 (Atlastin-1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data, published literature, and structural context.
P28P (p.Pro28Pro) variant details
- p.Pro28Pro
- rs35014209
- gnomAD 14-50587880-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.148
- CADD 9.47
- Population evidence available
- Structural context available
- Cited in: Spastic Paraplegia 3A. (PMID 20862796)