S75N (p.Ser75Asn) variant of SF3B1 (Splicing factor 3B subunit 1)
S75N (p.Ser75Asn) in SF3B1 (Splicing factor 3B subunit 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
S75N (p.Ser75Asn) variant details
- p.Ser75Asn
- cosmic curated COSV10590
- ExAC rs745690210
- gnomAD rs745690210
- Missense
- Variant Prioritization Score for Impact Estimate 0.335
- REVEL 0.06
- CADD 19.60
- PolyPhen-2 0.01
- SIFT 0.58
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available