Q39Q (p.Gln39Gln) variant of PPP2R5D (Q14738)
Q39Q (p.Gln39Gln) in PPP2R5D (Q14738) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
Q39Q (p.Gln39Gln) variant details
- p.Gln39Gln
- rs761463281
- gnomAD 6-43006474-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.296
- AlphaMissense 0.13
- MetaLR 0.03
- MetaSVM -1.08
- CADD 8.10
- PolyPhen-2 0.00
- SIFT 0.14
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- Literature evidence available