V124A (p.Val124Ala) variant of TNFRSF1A (P19438)
V124A (p.Val124Ala) in TNFRSF1A (P19438) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of TNF receptor-associated periodic fever syndrome (TRAPS). The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
V124A (p.Val124Ala) variant details
- p.Val124Ala
- gnomAD rs200801196
- Uncertain significance
- TNF receptor-associated periodic fever syndrome (TRAPS)
- Missense
- Variant Prioritization Score for Impact Estimate 0.452
- REVEL 0.61
- CADD 22.00
- PolyPhen-2 0.46
- SIFT 0.02
- ClinVar: Uncertain significance (TNF receptor-associated periodic fever syndrome (TRAPS))
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available