A52V (p.Ala52Val) variant of TNFRSF13C (Q96RJ3)
A52V (p.Ala52Val) in TNFRSF13C (Q96RJ3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and published literature.
A52V (p.Ala52Val) variant details
- p.Ala52Val
- gnomAD 22-41926313-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.266
- REVEL 0.14
- MetaLR 0.05
- MetaSVM -1.03
- CADD 11.10
- PolyPhen-2 0.30
- SIFT 0.16
- Most common in the African/African-American population (allele frequency 0.00031)
- Literature evidence available