T30P (p.Thr30Pro) variant of FERMT1 (Fermitin family homolog 1)
T30P (p.Thr30Pro) in FERMT1 (Fermitin family homolog 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
T30P (p.Thr30Pro) variant details
- p.Thr30Pro
- 1000Genomes rs538757728
- ExAC rs538757728
- gnomAD rs538757728
- Missense
- Variant Prioritization Score for Impact Estimate 0.276
- REVEL 0.24
- CADD 22.20
- PolyPhen-2 0.01
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- Structural context available