P21A (p.Pro21Ala) variant of HNF4A (P41235)
P21A (p.Pro21Ala) in HNF4A (P41235) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data and structural context.
P21A (p.Pro21Ala) variant details
- p.Pro21Ala
- gnomAD rs2063407337
- Missense
- Variant Prioritization Score for Impact Estimate 0.76
- REVEL 0.72
- MetaLR 0.83
- MetaSVM 0.81
- CADD 24.70
- PolyPhen-2 0.74
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available