A21D (p.Ala21Asp) variant of FH (P07954)
A21D (p.Ala21Asp) in FH (P07954) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. 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.
A21D (p.Ala21Asp) variant details
- p.Ala21Asp
- rs1131691251
- ClinGen CA345442900
- ClinVar RCV002720686
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.277
- REVEL 0.33
- CADD 10.10
- PolyPhen-2 0.00
- SIFT 0.16
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available