I80M (p.Ile80Met) variant of PPP2R5D (Q14738)
I80M (p.Ile80Met) in PPP2R5D (Q14738) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data, published literature, and structural context.
I80M (p.Ile80Met) variant details
- p.Ile80Met
- gnomAD 6-43006597-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.105
- REVEL 0.06
- CADD 15.60
- PolyPhen-2 0.02
- SIFT 0.04
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available