S17P (p.Ser17Pro) variant of PURA (Q00577)
S17P (p.Ser17Pro) in PURA (Q00577) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
S17P (p.Ser17Pro) variant details
- p.Ser17Pro
- gnomAD 5-140114230-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.318
- REVEL 0.23
- ESM-1b 0.00
- AlphaMissense 0.09
- CADD 19.40
- PolyPhen-2 0.00
- SIFT 0.17
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available
- Literature evidence available