P102L (p.Pro102Leu) variant of MCCC1 (Q96RQ3)
P102L (p.Pro102Leu) in MCCC1 (Q96RQ3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data and structural context.
P102L (p.Pro102Leu) variant details
- p.Pro102Leu
- cosmic curated COSV55610
- gnomAD rs1387070053
- Missense
- Variant Prioritization Score for Impact Estimate 0.703
- REVEL 0.68
- CADD 23.10
- PolyPhen-2 0.18
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 6.3e-06)
- Structural context available