T51S (p.Thr51Ser) variant of ATL1 (Atlastin-1)
T51S (p.Thr51Ser) in ATL1 (Atlastin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
T51S (p.Thr51Ser) variant details
- p.Thr51Ser
- gnomAD 14-50587948-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.225
- REVEL 0.10
- CADD 13.60
- PolyPhen-2 0.00
- SIFT 0.19
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available
- Literature evidence available