V62I (p.Val62Ile) variant of CFH (Complement factor H)
V62I (p.Val62Ile) in CFH (Complement factor H) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign/likely benign in the context of Atypical hemolytic-uremic syndrome; Factor H deficiency; Age related macular deg. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
V62I (p.Val62Ile) variant details
- p.Val62Ile
- rs800292
- UniProt VAR 023836
- Benign/Likely benign
- Atypical hemolytic-uremic syndrome; Factor H deficiency; Age related macular deg
- Missense
- Variant Prioritization Score for Impact Estimate 0.244
- REVEL 0.14
- CADD 7.64
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Benign/Likely benign (Atypical hemolytic-uremic syndrome; Factor H deficiency; Age rel)
- EBI: Benign
- UniProt: Benign
- Most common in the HGDP:SURUI population (allele frequency 1)
- Structural context available
- Cited in: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID 15489334)
- Cited in: A common haplotype in the complement regulatory gene factor H (HF1/CFH) predisposes individuals to age-related macular… (PMID 15870199)