S27L (p.Ser27Leu) variant of AGTRAP (Q6RW13)
S27L (p.Ser27Leu) in AGTRAP (Q6RW13) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data, published literature, and structural context.
S27L (p.Ser27Leu) variant details
- p.Ser27Leu
- gnomAD 1-11747457-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.108
- REVEL 0.08
- ESM-1b 0.00
- AlphaMissense 0.11
- CADD 8.11
- PolyPhen-2 0.14
- SIFT 0.05
- Population evidence available
- Structural context available
- Literature evidence available