R4P (p.Arg4Pro) variant of PURA (Q00577)
R4P (p.Arg4Pro) in PURA (Q00577) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
R4P (p.Arg4Pro) variant details
- p.Arg4Pro
- Ensembl rs1581035983
- Missense
- Variant Prioritization Score for Impact Estimate 0.41
- REVEL 0.23
- ESM-1b 0.00
- AlphaMissense 0.76
- CADD 28.10
- PolyPhen-2 0.86
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 1.7e-06)
- Structural context available