D127V (p.Asp127Val) variant of SHTN1 (Shootin-1)
D127V (p.Asp127Val) in SHTN1 (Shootin-1) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
D127V (p.Asp127Val) variant details
- p.Asp127Val
- TOPMed rs1298120368
- gnomAD rs1298120368
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.473
- REVEL 0.40
- ESM-1b 0.53
- AlphaMissense 0.09
- MetaLR 0.70
- MetaSVM 0.39
- CADD 22.10
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the HGDP:RUSSIAN population (allele frequency 0.08)
- Structural context available