L30Q (p.Leu30Gln) variant of HFE (Q30201)
L30Q (p.Leu30Gln) in HFE (Q30201) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
L30Q (p.Leu30Gln) variant details
- p.Leu30Gln
- gnomAD rs1302552911
- Missense
- Variant Prioritization Score for Impact Estimate 0.397
- REVEL 0.30
- CADD 25.40
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 5.8e-05)
- Structural context available