D63H (p.Asp63His) variant of CYP11B1 (P15538)
D63H (p.Asp63His) in CYP11B1 (P15538) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Congenital adrenal hyperplasia; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.07 / 1. The record also includes population frequency data and structural context.
D63H (p.Asp63His) variant details
- p.Asp63His
- rs5282
- ClinGen CA4905689
- cosmic curated COSV52829
- ClinVar RCV000668553
- Conflicting interpretations
- Congenital adrenal hyperplasia; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.0746
- REVEL 0.06
- CADD 5.86
- PolyPhen-2 0.00
- SIFT 0.18
- ClinVar: Conflicting classifications of pathogenicity (Congenital adrenal hyperplasia; not provided)
- EBI: Likely pathogenic (in dbSNP:rs5282)
- UniProt: Likely pathogenic (in dbSNP:rs5282)
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available