P24A (p.Pro24Ala) variant of PURA (Q00577)
P24A (p.Pro24Ala) in PURA (Q00577) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes structural context.
P24A (p.Pro24Ala) variant details
- p.Pro24Ala
- rs1064795164
- ClinGen CA16618120
- ClinVar RCV000479966
- Ensembl rs1064795164
- Likely pathogenic
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.311
- ESM-1b 0.00
- AlphaMissense 0.05
- MetaLR 0.40
- MetaSVM -0.48
- PolyPhen-2 0.03
- SIFT 0.06
- ClinVar: Likely pathogenic (not provided)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available