Q51H (p.Gln51His) variant of PPP2R5D (Q14738)
Q51H (p.Gln51His) in PPP2R5D (Q14738) is a missense change. Clinical records from ClinVar 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 0.20 / 1. The record also includes population frequency data and structural context.
Q51H (p.Gln51His) variant details
- p.Gln51His
- TOPMed rs1762089282
- gnomAD rs1762089282
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.2
- REVEL 0.09
- CADD 17.70
- PolyPhen-2 0.00
- SIFT 0.03
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.6e-05)
- Structural context available