H51H (p.His51His) variant of OCRL (Q01968)
H51H (p.His51His) in OCRL (Q01968) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
H51H (p.His51His) variant details
- p.His51His
- rs1392543051
- gnomAD X-129544991-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.451
- CADD 9.53
- Most common in the REMAINING population (allele frequency 2.2e-05)
- Structural context available
- Literature evidence available