P49L (p.Pro49Leu) variant of UBQLN2 (Ubiquilin-2)
P49L (p.Pro49Leu) in UBQLN2 (Ubiquilin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
P49L (p.Pro49Leu) variant details
- p.Pro49Leu
- gnomAD X-56564019-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.412
- REVEL 0.25
- MetaLR 0.38
- MetaSVM -0.48
- CADD 23.00
- PolyPhen-2 0.74
- SIFT 0.28
- Most common in the Latino/Admixed American population (allele frequency 3.3e-05)
- Structural context available
- Literature evidence available