P133L (p.Pro133Leu) variant of CDKN1C (P49918)
P133L (p.Pro133Leu) in CDKN1C (P49918) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
P133L (p.Pro133Leu) variant details
- p.Pro133Leu
- rs1281208086
- gnomAD 11-2883907-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.286
- CADD 16.80
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available