H69R (p.His69Arg) variant of LAMP2 (P13473)
H69R (p.His69Arg) in LAMP2 (P13473) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.03 / 1. The record also includes population frequency data.
H69R (p.His69Arg) variant details
- p.His69Arg
- ExAC rs771157957
- gnomAD rs771157957
- Missense
- Variant Prioritization Score for Impact Estimate 0.0267
- REVEL 0.00
- CADD 0.00
- PolyPhen-2 0.00
- SIFT 0.37
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)