P62S (p.Pro62Ser) variant of KDM6B (Lysine-specific demethylase 6B)
P62S (p.Pro62Ser) in KDM6B (Lysine-specific demethylase 6B) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
P62S (p.Pro62Ser) variant details
- p.Pro62Ser
- rs144535196
- ClinGen CA8360098
- ClinVar RCV004409172
- ESP rs144535196
- Likely benign
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.176
- REVEL 0.09
- MetaLR 0.03
- MetaSVM -1.09
- CADD 17.40
- PolyPhen-2 0.08
- SIFT 0.26
- ClinVar: Likely benign (Inborn genetic diseases)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Latino/Admixed American population (allele frequency 0.00013)
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)