S50P (p.Ser50Pro) variant of AGTRAP (Q6RW13)
S50P (p.Ser50Pro) in AGTRAP (Q6RW13) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data, published literature, and structural context.
S50P (p.Ser50Pro) variant details
- p.Ser50Pro
- gnomAD 1-11747525-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.71
- REVEL 0.68
- ESM-1b 1.00
- AlphaMissense 0.95
- CADD 28.00
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available
- Literature evidence available