A52P (p.Ala52Pro) variant of SDHB (P21912)
A52P (p.Ala52Pro) in SDHB (P21912) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
A52P (p.Ala52Pro) variant details
- p.Ala52Pro
- TOPMed rs1183722041
- gnomAD rs1183722041
- Missense
- Variant Prioritization Score for Impact Estimate 0.338
- REVEL 0.28
- AlphaMissense 0.07
- MetaLR 0.82
- MetaSVM 0.32
- CADD 13.60
- PolyPhen-2 0.00
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- Structural context available