H24R (p.His24Arg) variant of PANK2 (Q9BZ23)
H24R (p.His24Arg) in PANK2 (Q9BZ23) 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.
H24R (p.His24Arg) variant details
- p.His24Arg
- gnomAD 20-3889507-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.293
- REVEL 0.28
- ESM-1b 0.00
- AlphaMissense 0.08
- MetaLR 0.64
- MetaSVM -0.31
- CADD 14.87
- Most common in the Non-Finnish European population (allele frequency 9.6e-07)
- Structural context available
- Literature evidence available