P18S (p.Pro18Ser) variant of KMT2C (Q8NEZ4)
P18S (p.Pro18Ser) in KMT2C (Q8NEZ4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Kleefstra syndrome 2. The record also includes variant effect predictions and population frequency data.
P18S (p.Pro18Ser) variant details
- p.Pro18Ser
- rs1323931123
- ClinGen CA370104514
- ClinVar RCV002288241
- ClinVar RCV005242214
- Uncertain significance
- not provided; Kleefstra syndrome 2
- Missense
- REVEL 0.21
- CADD 19.70
- PolyPhen-2 0.04
- SIFT 0.01
- ClinVar: Uncertain significance (not provided; Kleefstra syndrome 2)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 8.9e-05)