A113V (p.Ala113Val) variant of SF3B1 (Splicing factor 3B subunit 1)
A113V (p.Ala113Val) in SF3B1 (Splicing factor 3B subunit 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
A113V (p.Ala113Val) variant details
- p.Ala113Val
- Ensembl rs2106010567
- Missense
- Variant Prioritization Score for Impact Estimate 0.442
- REVEL 0.30
- CADD 23.30
- PolyPhen-2 0.01
- SIFT 0.15
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available