I21V (p.Ile21Val) variant of SHTN1 (Shootin-1)
I21V (p.Ile21Val) in SHTN1 (Shootin-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.
I21V (p.Ile21Val) variant details
- p.Ile21Val
- cosmic curated COSV10502
- ExAC rs779365654
- TOPMed rs779365654
- gnomAD rs779365654
- Missense
- Variant Prioritization Score for Impact Estimate 0.349
- REVEL 0.35
- ESM-1b 0.00
- AlphaMissense 0.08
- CADD 23.80
- PolyPhen-2 0.93
- SIFT 0.43
- Most common in the HGDP:BANTUKENYA population (allele frequency 0.15)
- Structural context available