H8Y (p.His8Tyr) variant of SF3B1 (Splicing factor 3B subunit 1)
H8Y (p.His8Tyr) in SF3B1 (Splicing factor 3B subunit 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
H8Y (p.His8Tyr) variant details
- p.His8Tyr
- cosmic curated COSV10590
- 1000Genomes rs199519570
- Missense
- Variant Prioritization Score for Impact Estimate 0.352
- REVEL 0.07
- CADD 23.50
- PolyPhen-2 0.18
- SIFT 0.08
- Most common in the 1KG:TSI population (allele frequency 0.0049)
- Structural context available