I80V (p.Ile80Val) variant of PPP2R5D (Q14738)
I80V (p.Ile80Val) in PPP2R5D (Q14738) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
I80V (p.Ile80Val) variant details
- p.Ile80Val
- gnomAD 6-43006595-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.272
- REVEL 0.07
- CADD 18.40
- PolyPhen-2 0.00
- SIFT 0.07
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available