A132V (p.Ala132Val) variant of SHTN1 (Shootin-1)
A132V (p.Ala132Val) in SHTN1 (Shootin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes structural context.
A132V (p.Ala132Val) variant details
- p.Ala132Val
- cosmic curated COSV53380
- Ensembl rs1849887525
- Missense
- Variant Prioritization Score for Impact Estimate 0.147
- REVEL 0.09
- ESM-1b 0.00
- AlphaMissense 0.07
- MetaLR 0.05
- MetaSVM -1.04
- SIFT 0.26
- Structural context available