R45Q (p.Arg45Gln) variant of SHTN1 (Shootin-1)
R45Q (p.Arg45Gln) in SHTN1 (Shootin-1) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data and structural context.
R45Q (p.Arg45Gln) variant details
- p.Arg45Gln
- rs760926506
- NCI-TCGA Cosmic COSV5337
- cosmic curated COSV53379
- ExAC rs760926506
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.654
- REVEL 0.48
- ESM-1b 1.00
- AlphaMissense 0.66
- CADD 26.80
- PolyPhen-2 0.99
- SIFT 0.02
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the HGDP:BANTUKENYA population (allele frequency 0.15)
- Structural context available