V14I (p.Val14Ile) variant of PPP2R5D (Q14738)
V14I (p.Val14Ile) in PPP2R5D (Q14738) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
V14I (p.Val14Ile) variant details
- p.Val14Ile
- rs1771109410
- ClinGen CA364174662
- ClinVar RCV003553142
- TOPMed rs1771109410
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.237
- REVEL 0.08
- MetaLR 0.03
- MetaSVM -0.96
- CADD 15.30
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available