A29V (p.Ala29Val) variant of SHTN1 (Shootin-1)
A29V (p.Ala29Val) in SHTN1 (Shootin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
A29V (p.Ala29Val) variant details
- p.Ala29Val
- cosmic curated COSV53380
- TOPMed rs1245818922
- gnomAD rs1245818922
- Missense
- Variant Prioritization Score for Impact Estimate 0.381
- REVEL 0.29
- ESM-1b 0.00
- AlphaMissense 0.18
- CADD 25.80
- PolyPhen-2 0.99
- SIFT 0.16
- Most common in the HGDP:RUSSIAN population (allele frequency 0.08)
- Structural context available