V9F (p.Val9Phe) variant of SPTA1 (P02549)
V9F (p.Val9Phe) in SPTA1 (P02549) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Hereditary spherocytosis type 3; Pyropoikilocytosis, hereditary. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data.
V9F (p.Val9Phe) variant details
- p.Val9Phe
- rs111321033
- ClinGen CA1184272
- ClinVar RCV000309368
- ClinVar RCV000364094
- Uncertain significance
- not provided; Hereditary spherocytosis type 3; Pyropoikilocytosis, hereditary
- Missense
- Variant Prioritization Score for Impact Estimate 0.736
- CADD 22.70
- PolyPhen-2 0.10
- SIFT 0.06
- ClinVar: Uncertain significance (not provided; Hereditary spherocytosis type 3; Pyropoikilocytosi)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:SAN population (allele frequency 0.17)