L30P (p.Leu30Pro) variant of MYO15A (Unconventional myosin-XV)
L30P (p.Leu30Pro) in MYO15A (Unconventional myosin-XV) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data and structural context.
L30P (p.Leu30Pro) variant details
- p.Leu30Pro
- ExAC rs761255026
- Missense
- Variant Prioritization Score for Impact Estimate 0.612
- REVEL 0.70
- ESM-1b 0.00
- AlphaMissense 0.97
- CADD 26.20
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available