L6P (p.Leu6Pro) variant of ATP6V1A (P38606)
L6P (p.Leu6Pro) in ATP6V1A (P38606) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data, published literature, and structural context.
L6P (p.Leu6Pro) variant details
- p.Leu6Pro
- gnomAD 3-113778770-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.602
- REVEL 0.60
- CADD 24.50
- PolyPhen-2 0.02
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available
- Literature evidence available