H53R (p.His53Arg) variant of SLC18A2 (Q05940)
H53R (p.His53Arg) in SLC18A2 (Q05940) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data.
H53R (p.His53Arg) variant details
- p.His53Arg
- cosmic curated COSV53691
- gnomAD rs1422205573
- Missense
- Variant Prioritization Score for Impact Estimate 0.59
- CADD 22.00
- PolyPhen-2 0.30
- SIFT 0.03
- Most common in the Non-Finnish European population (allele frequency 9e-07)