P30L (p.Pro30Leu) variant of MMAB (Q96EY8)
P30L (p.Pro30Leu) in MMAB (Q96EY8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
P30L (p.Pro30Leu) variant details
- p.Pro30Leu
- gnomAD rs1397594349
- Missense
- Variant Prioritization Score for Impact Estimate 0.226
- REVEL 0.19
- ESM-1b 0.00
- AlphaMissense 0.11
- CADD 21.50
- PolyPhen-2 0.00
- SIFT 0.11
- Most common in the Non-Finnish European population (allele frequency 8.1e-06)
- Structural context available