S14P (p.Ser14Pro) variant of UBQLN2 (Ubiquilin-2)
S14P (p.Ser14Pro) in UBQLN2 (Ubiquilin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
S14P (p.Ser14Pro) variant details
- p.Ser14Pro
- gnomAD X-56563913-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.285
- REVEL 0.20
- MetaLR 0.07
- MetaSVM -1.01
- CADD 22.60
- PolyPhen-2 0.45
- SIFT 0.07
- Population evidence available
- Structural context available
- Literature evidence available