V154A (p.Val154Ala) variant of SHTN1 (Shootin-1)
V154A (p.Val154Ala) in SHTN1 (Shootin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
V154A (p.Val154Ala) variant details
- p.Val154Ala
- TOPMed rs893303971
- gnomAD rs893303971
- Missense
- Variant Prioritization Score for Impact Estimate 0.293
- REVEL 0.01
- ESM-1b 0.70
- AlphaMissense 0.09
- MetaLR 0.06
- MetaSVM -1.03
- CADD 16.70
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available