P70T (p.Pro70Thr) variant of HFE (Q30201)
P70T (p.Pro70Thr) in HFE (Q30201) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
P70T (p.Pro70Thr) variant details
- p.Pro70Thr
- gnomAD rs1263353185
- Missense
- Variant Prioritization Score for Impact Estimate 0.269
- REVEL 0.27
- CADD 10.80
- PolyPhen-2 0.13
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 3.4e-06)
- Structural context available