A52P (p.Ala52Pro) variant of TNFRSF13C (Q96RJ3)
A52P (p.Ala52Pro) in TNFRSF13C (Q96RJ3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and published literature.
A52P (p.Ala52Pro) variant details
- p.Ala52Pro
- gnomAD 22-41926314-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.226
- REVEL 0.12
- MetaLR 0.07
- MetaSVM -1.03
- CADD 17.40
- PolyPhen-2 0.40
- SIFT 0.06
- Most common in the South Asian population (allele frequency 1.2e-05)
- Literature evidence available