P95R (p.Pro95Arg) variant of SRSF2 (Q01130)
P95R (p.Pro95Arg) in SRSF2 (Q01130) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Acute megakaryoblastic leukemia in down syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data.
P95R (p.Pro95Arg) variant details
- p.Pro95Arg
- rs751713049
- ClinGen CA8790424
- NCI-TCGA Cosmic COSV5796
- cosmic curated COSV57969
- Likely pathogenic
- Acute megakaryoblastic leukemia in down syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.743
- CADD 25.40
- PolyPhen-2 0.99
- SIFT 0.12
- ClinVar: Likely pathogenic (Acute megakaryoblastic leukemia in down syndrome)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the REMAINING population (allele frequency 0.00048)