S26P (p.Ser26Pro) variant of PURA (Q00577)
S26P (p.Ser26Pro) in PURA (Q00577) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
S26P (p.Ser26Pro) variant details
- p.Ser26Pro
- gnomAD rs1383754842
- Missense
- Variant Prioritization Score for Impact Estimate 0.29
- REVEL 0.21
- ESM-1b 0.00
- AlphaMissense 0.10
- CADD 23.20
- PolyPhen-2 0.01
- SIFT 0.04
- Most common in the Non-Finnish European population (allele frequency 1.6e-05)
- Structural context available