V49I (p.Val49Ile) variant of SHTN1 (Shootin-1)
V49I (p.Val49Ile) 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 0.31 / 1. The record also includes population frequency data and structural context.
V49I (p.Val49Ile) variant details
- p.Val49Ile
- rs905104409
- NCI-TCGA Cosmic COSV5338
- cosmic curated COSV53381
- TOPMed rs905104409
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.308
- REVEL 0.24
- ESM-1b 0.00
- AlphaMissense 0.10
- CADD 15.70
- PolyPhen-2 0.03
- SIFT 0.53
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the HGDP:DRUZE population (allele frequency 0.1)
- Structural context available