P82L (p.Pro82Leu) variant of SF3B1 (Splicing factor 3B subunit 1)
P82L (p.Pro82Leu) in SF3B1 (Splicing factor 3B subunit 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
P82L (p.Pro82Leu) variant details
- p.Pro82Leu
- TOPMed rs1380493824
- gnomAD rs1380493824
- Missense
- Variant Prioritization Score for Impact Estimate 0.396
- REVEL 0.15
- CADD 23.40
- PolyPhen-2 0.00
- SIFT 0.30
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available